Breaking research developments on NF2, worldwide http://www.advocurenf2.org/index.html http://blogs.law.harvard.edu/tech/rss Fri, 30 Jul 2010 12:00:00 -0400 Recently, Advocure NF Inc spoke with both Dr. Abhijit Guha of UHN TWH in Toronto and Novartis regarding two new proposed clinical trials of Nilotinib on Adult and Pedatric NF2 this Fall. http://www.advocurenf2.org/00_news_nilotinib.html Fri, 30 Jul 2010 12:00:00 -0400 Recently, Advocure NF2 Inc wrote CTF to ask for clarification between the CDMRP's NF Consortium, the CTF's NF Preclinical Consortium, and the CTF's NF Clinic Network. Explanation by Dr. Kim Hunter-Schaedle, CSO of CTF. http://www.advocurenf2.org/00_news_nfnetworks.html Thu, 29 Jul 2010 13:00:00 -0400 Advocure NF2, Inc is now on Facebook! Help support our Cause. http://www.causes.com/causes/484541 Wed, 28 Jul 2010 22:00:00 -0400 'Help Stop NF2' is a 501(c)(3) public charity founded by Harley and Rebecca Dufek in 2009. http://helpstopnf2.org/ Wed, 28 Jul 2010 22:00:00 -0400 Recently, Advocure NF2 Inc wrote and asked the Congressionally Directed Research Program (CDMRP NFRP) director, Dr. Naba Bora for clarification on CDMRP's grant funding mechanism, and lack of centers of NF2 expertise at its NF Consortium (as of 2010). Response by Naba Bora, PhD. http://www.advocurenf2.org/00_news_CDMRP2011.html Tue, 27 Jul 2010 15:00:00 -0400 The principle behind the recently reported promising trial of bevacizumab (Avastin) in NF2, where the drug was seen to reduce tumor volume and restore hearing in a small number of patients, is that the drug targets vascular endothelial growth factor and in essence normalizes blood vessel growth which is disrupted in the tumors. Wong et al. review the rationale for VEGF-targeted drug therapies in NF2 in mouse models, examining the underlying biological changes of the tumors in response to this therapy. This study shows that anti-VEGF therapy normalizes the vasculature of schwannoma xenografts in nude mice and successfully controls the tumor growth, probably by reestablishing a natural balance between VEGF and semaphorin 3 signaling. In a Children’s Tumor Foundation funded research study, Ammoun et al. report a study that examines the rationale for testing drugs that target receptor tyrosine kinases (RTKs) as candidate NF2 therapies. Examining surgically removed human vestibular schwannoma (VS) tissue, phosphorylated (active) RTK signaling is abnormally high in VS tumors. The drug lapatinib which inhibits this signaling was then tested on human VS explants and found to quiet these pathways and reduce cell proliferation. (The Children’s Tumor Foundation currently funds a pilot Phase Zero clinical trial Phase Zero of lapatinib in NF2). Bensenor et al.examine the question of how the NF2 protein merlin functions inside the cell to control growth. Using a fly derived cell model, they found that fly merlin protein forms particles in the cell that move up and down microtubules and in this way move around inside the cell. Stamenkovic and Yuprovide a review merlin function. http://www.ctf.org/For-Scientists/summer-2010-neurofibromatosis-research-roundup.html Sat, 17 Jul 2010 13:00:00 -0400 Neary et al. have developed a questionnaire for the purposes of measuring the primary and secondary quality of life impacts of NF2; the survey has been piloted in the UK. Lim et al. report on a case of tanycytic ependymoma, a rare subtype of ependymoma rarely seen in NF2, in a 16 year old girl. MRI revealed an intramedullary lesion within the upper cervical spinal cord, which was removed surgically. Pathology revealed a rare morphology that could be misinterpreted as pilocytic astrocytoma or other tumor type. The authors encourage increased awareness of tanycytic ependymoma among neurosurgeons and pathologists to ensure appropriate management and treatment. Sisk et al.review the clinical feature of epiretinal membranes (lesions in the eye that cause reduced visual acuity) and from a study of 4 patients propose these as a novel predictor of NF2 severe phenotype in otherwise asymptomatic children. A controversial area in NF2 clinical management, radiosurgery was a focus of the NF2 meetings in Las Vegas, with a conclusion that there is a place for radiosurgery in NF2 under certain circumstances such as small and difficult to reach tumors (to be detailed in the forthcoming recommendations paper from that meeting).Sharma et al. present a review of the use of Gamma Knife radiosurgery on tumor control and hearing preservation in NF2. A tumor control rate of 87.5% is reported with 33.3% tumor regression. Hearing preservation of in 66.7% was seen but the group acknowledges that long term follow up is key to fully evaluate the application and outcome of this technology. Since its introduction, the use of the auditory brainstem implant (ABI) for hearing restoration in NF2 has grown in popularity and has also been extended to adults and children without tumor conditions. Colletti et al. do a retrospective analysis of 114 individual ABI surgeries (83 adults and 31 children) performed between 1997 and 2008 and find that overall ABI has a low rate of complications, especially in NF2. In another paper, Schwartz et al. report the first case of trigeminal neuralgia resulting from an ABI cable’s nonvascular compression in an NF2 patient. http://www.ctf.org/For-Scientists/summer-2010-neurofibromatosis-research-roundup.html Sat, 17 Jul 2010 13:00:00 -0400 The Children’s Tumor Foundation is conducting a survey to find out the extent to which the drug bevacizumab (better known by its trade name Avastin) has been/is currently being prescribed to individuals with NF2, both inside and outside the context of organized clinical trials. This information will be extremely helpful in understanding current use patterns of Avastin in the NF2 population. Collectively this data could be helpful in planning future clinical trials. This survey may be taken anonymously, please provide as much information and use as much space as you wish. You need not complete all questions if you are not sure how to respond to some. You need not provide your name or your doctor/clinic name if you do not wish to. The data collected through this survey will be collated, tabulated and graphed (e.g. to show number of respondents, responses to certain questions, etc.) without identifying information on survey respondents. This data will be emailed to all survey respondents that provide an email address. The collective data may be shared with researchers/physicians and more publicly without any information that identifies survey respondents. http://www.ctf.org/blog/1054-nf2-avastin-survey-reminder-download-and-submit-today.html Wed, 7 Jul 2010 16:00:00 -0400 CEO Vasella Sees Value in Niche Drugs That Can Have Broader Uses. - Like most pharmaceutical companies' CEOs, Daniel Vasella, chairman and chief executive of Switzerland's Novartis AG, is facing a large cocktail of problems. Insurers, governments and others who pay for health care—called "payers" in the industry lingo—are increasingly refusing to cover expensive new drugs that aren't substantially better than older, cheaper treatments. Regulators have become more safety conscious and less willing to approve new products for sale. And through a series of large mergers, pharmaceuticals giants have found bureaucracy creeping in and hampering their development of new drugs........ http://online.wsj.com/article/SB10001424052748703523504574604132767565294.html Wed, 7 Jul 2010 16:00:00 -0400 The world’s largest drug company is thinking small. Pfizer said Tuesday that it had licensed the worldwide rights to a treatment for Gaucher disease, a rare genetic disorder, from Protalix Biotherapeutics, an Israeli biotechnology company, The New York Times’s Andrew Pollack writes..... http://dealbook.blogs.nytimes.com/2009/12/02/pfizer-deal-signals-a-move-into-treating-rare-diseases/ Wed, 7 Jul 2010 16:00:00 -0400 Over half of individuals with NF2 will develop cataracts in the lens of the eye called PSCs. Wiley et al. present some ideas for the biological basis of these cataracts. The NF2 gene was inactivated in a genetic mouse model only in the developing cells that will give rise to the lens, called fiber cells. Unlike normal fiber cells, the NF2 inactivated fiber cells were unable to stop dividing at the correct time in development, and also continued to express genes associate with their immature stage. These fiber cells failed to take on their usual elongated shape in the lens and do not form appropriate connections and associations with neighboring cells. Overall the lens failed to detach from other tissues as it should but continued to grow into a tumor-like mass. These findings highlight the molecular events underpinning NF2 related cataracts and this new mouse model will be helpful for screening candidate NF2 drug therapies. http://www.ctf.org/For-Scientists/spring-research-roundup.html Wed, 7 Jul 2010 15:00:00 -0400 A study with first author Children’s Tumor Foundation Young Investigator Awardee Geoffrey Kilili has uncovered novel ideas about merlin signaling. In the fruit fly, merlin protein function acts by promoting Hippo. The mammalian Hippo homolog is Mst2 and, as in flies, it mediates merlin tumor suppressor function/prevention of excess cell proliferation. Meanwhile Mst2 itself is negatively regulated by Raf-1. Kilili found that merlin did not necessarily promote Mst2 signaling in mammalian cells; and, inhibiting Mst2 impairs Raf-1 signaling, after which cell proliferation ceases. This research reveals a potentially more complex role for Mst2 than previously thought, perhaps dual roles for Mst2 as a tumor suppressor and as a cell growth promoter. Yu et al. shed light on mechanisms of merlin function and identify Kibra, another upstream component of the Hippo signaling pathway that functions together with Mer and Ex in a protein complex localized to the apical domain of epithelial cells, and that this protein complex regulates the Hippo kinase cascade and implicate Kibra as a potential tumor suppressor with relevance to neurofibromatosis. Bosco et al. endeavor to shed light on the mechanism through which merlin normally exerts its tumor-suppressive function, and thereby, on how this is disrupted in NF2 tumors. Through a series of elegant experiments using NF2 knockout mouse embryonic fibroblasts the group proposes an essential role for Rac1-mediated canonical Wnt signaling in the loss of contact inhibition in NF2-deficient cells. In one third of glioblastomas NF2 gene function is inactivated. Morales et al. report that this inactivation can happen in 2 ways: decreased NF2 protein expression, or, due to increased levels of related protein ezrin, which disables NF2 function by intermolecular association and aberrant intracellular recruitment. Yi et al. describe efforts to optimize drugs that target the p21-activated kinases (PAKs), candidate drug targets in NF2. This is also the focus of current CTF Drug Discovery Initiative Award recipient Dr. Joe Kissil (The Wistar Institute). http://www.ctf.org/For-Scientists/spring-research-roundup.html Wed, 7 Jul 2010 15:00:00 -0400 For months now, the Food and Drug Administration has been trying novel ways of encouraging drug makers to develop drugs for rare diseases...... http://blogs.wsj.com/health/2010/06/18/fda-database-aims-to-spark-orphan-disease-drug-development/ Wed, 7 Jul 2010 15:00:00 -0400 Harvard Medical School / Massachusetts Eye and Ear Infirmary Boston MA. Adrian Priesol, M.D. at (617) 573-4148. email: adrian_priesol@meei.harvard.edu . The general clinical goal for our study is to quantify motion perception for a range of vestibular disorders. A long-term goal is to develop new clinical tests to provide early diagnosis for vestibular disorders. These clinical research efforts are part of a broader basic science investigation of vestibular thresholds. At this time, we are seeking NF2 patients who have complete loss of vestibular (i.e., “balance/equilibrium organ”) function in both ears following surgical removal of tumors from both ears. Travel reimbursement would be paid for all qualifying volunteers. http://www.masseyeandear.org/research/clinical-trials/otolaryngology-clinical-trials/wanted-vrstudy-participants/ Sun, 4 Jul 2010 13:00:00 -0400 As a stakeholder in the rare disease community, your opinions are needed regarding patient registry business models and the functions needed to support a global rare disease registry program. Please complete a short anonymous survey (approximately 3 minutes) to be sure your interests are represented. This is not an NIH ORDR sponsored survey - all responses will be held in confidence and only aggregated survey results will be shared. Your input is critial to understand the current needs of stakeholders and to deliver the best possible registry solutions for the rare disease community. If you have any questions or concerns, or would like to learn more about our registry programs please contact me directly at kyle@innolyst.com. http://innolyst.com/index.php?option=com_surveys&Itemid=81&act=view_survey&survey=Patient%20Registry%20Survey Wed, 23 Jun 2010 19:00:00 -0400 The Children’s Tumor Foundation is conducting a survey to find out the extent to which the drug bevacizumab (better known by its trade name Avastin) has been/is currently being prescribed to individuals with NF2, both inside and outside the context of organized clinical trials. This information will be extremely helpful in understanding current use patterns of Avastin in the NF2 population. Collectively this data could be helpful in planning future clinical trials. This survey may be taken anonymously, please provide as much information and use as much space as you wish. You need not complete all questions if you are not sure how to respond to some. You need not provide your name or your doctor/clinic name if you do not wish to. The data collected through this survey will be collated, tabulated and graphed (e.g. to show number of respondents, responses to certain questions, etc.) without identifying information on survey respondents. This data will be emailed to all survey respondents that provide an email address. The collective data may be shared with researchers/physicians and more publicly without any information that identifies survey respondents. http://www.ctf.org/blog/1054-nf2-avastin-survey-reminder-download-and-submit-today.html Tue, 22 Jun 2010 13:00:00 -0400 Short videos from the 2010 NF Conference featuring such luminaries as Dr. Gareth Evans, Dr. Bruce Korf, Dr. Sue Huson, Dr. Vic Riccardi and Dr. Jaishri Blakeley. http://www.ctf.org/About-the-Foundation/foundation-videos.html Tue, 22 Jun 2010 13:00:00 -0400 Newsletter on NF2, by the Neurofibromatosis Association (NFA). Summer 2010 issue. http://nfauk.org/uploads/59442_NF2%20News.pdf Fri, 18 Jun 2010 16:00:00 -0400 "We recently heard from Professor Hanemann that his grant application for a trial of sorafenib has not been funded. This is disappointing BUT be reassured that Professor Hanemann will continue to seek funding having taken on board the reasons why the current application was not funded..." http://nfauk.org/uploads/59442_NF2%20News.pdf Fri, 18 Jun 2010 16:00:00 -0400 Dr. Jaishri Blakely Speaks on Neurofibromatosis. http://www.youtube.com/watch?v=skJcYXsuLdY Fri, 18 Jun 2010 16:00:00 -0400 Dr. Gareth Evans Speaks on Neurofibromatosis. http://www.youtube.com/watch?v=DQpSy-Cy_qA&feature=channel Fri, 18 Jun 2010 16:00:00 -0400 Dr. Sue Huson Speaks on Neurofibromatosis. http://www.youtube.com/watch?v=8RM6vW9v6y4&feature=channel Fri, 18 Jun 2010 16:00:00 -0400 The Children's Tumor Foundation was pleased to honor Dr. Roland and Dr. Golfinos at the 2008 Annual Benefit Dinner with the Children's Humanitarian Award. Together the doctors established one of the world's leading centers for treatment of NF2-related vestibular schwannoma surgery and clinical management at New York University. http://www.youtube.com/watch?v=L9R58azdJJU&feature=related Fri, 18 Jun 2010 16:00:00 -0400 There are many terms used to describe approaches to health care that are outside the realm of conventional medicine as practiced in the United States. This fact sheet explains how the National Center for Complementary and Alternative Medicine (NCCAM), a component of the National Institutes of Health, defines some of the key terms used in the field of complementary and alternative medicine (CAM). http://nccam.nih.gov/ Sun, 13 Jun 2010 11:00:00 -0400 "We are learning about CAM therapies every day, but there is still more to learn. Consumers may use the terms "natural," "holistic," "home remedy," or "Eastern medicine" to refer to CAM. However, experts use five categories to describe it. These are listed below with a few examples for each. (For a complete list of therapies, go to the National Center for Complementary and Alternative Medicine, http://nccam.nih.gov/health.). Mind-Body Medicines: These are based on the belief that your mind is able to affect your body. Some examples are: Meditation: Focused breathing or repetition of words or phrases to quiet the mind; Biofeedback: Using simple machines, the patient learns how to affect certain body functions that are normally out of one's awareness (such as heart rate); Hypnosis: A state of relaxed and focused attention in which the patient concentrates on a certain feeling, idea, or suggestion to aid in healing; Yoga: Systems of stretches and poses, with special attention given to breathing; Imagery: Imagining scenes, pictures, or experiences to help the body heal; Creative outlets: Such as art, music, or dance. Biologically Based Practices: This type of CAM uses things found in nature. This includes dietary supplements and herbal products. Some examples are: Vitamins, Herbs, Foods, Special diets. A note about nutrition: It's common for people with cancer to have questions about different foods to eat during treatment. Yet it's important to know that there is no one food or special diet that has been proven to control cancer. Too much of any one food is not helpful, and may even be harmful. Because of nutrition needs you may have, it's best to talk with the doctor in charge of your treatment about the foods you should be eating. Manipulative and Body-Based Practices: These are based on working with one or more parts of the body. Some examples are: Massage: Manipulation of tissues with hands or special tools. Chiropractic care: A type of manipulation of the joints and skeletal system. Reflexology: Using pressure points in the hands or feet to affect other parts of the body. Energy Medicine: Energy medicine involves the belief that the body has energy fields that can be used for healing and wellness. Therapists use pressure or move the body by placing their hands in or through these fields. Some examples are: Tai Chi: Involves slow, gentle movements with a focus on the breath and concentration. Reiki: Balancing energy either from a distance or by placing hands on or near the patient. Therapeutic touch: Moving hands over energy fields of the body. Whole Medical Systems: These are healing systems and beliefs that have evolved over time in different cultures and parts of the world. Some examples are: Ayurvedic medicine: A system from India emphasizing balance among body, mind, and spirit. Chinese medicine: Based on the view that health is a balance in the body of two forces called yin and yang. Acupuncture: is a common practice in Chinese medicine that involves stimulating specific points on the body to promote health, or to lessen disease symptoms and treatment side effects. Homeopathy: Uses very small doses of substances to trigger the body to heal itself. Naturopathic medicine: Uses different methods that help the body naturally heal itself." http://www.cancer.gov/cancertopics/treatment/cam Sun, 13 Jun 2010 11:00:00 -0400 CTF blog: ".....The other session covered basic and translational NF2 research, notably including well-attended presentations of the Phase II bevacizumab (Avastin) clinical trials from Massachusetts General Hospital (Scott Plotkin) and Phase 0 and Phase II lapatinib clinical trials ongoing at Johns Hopkins University and NYU Langone Medical Center (Matthias Karajannis). As we reported from Las Vegas, these trials are moving forward and expanding; for Avastin there will be 2 US trials centered at MGH and Johns Hopkins respectively with different entry criteria. Additional NF2 talks in this sesion included Janet Oblinger (Ohio State University) with an update on NF2 preclinical drug screening studies using OSU-03012 which has shown some promise in animal models....." http://www.ctf.org/blog/1003-2010-nf-conference-final-day-and-closing-thoughts.html Sun, 13 Jun 2010 11:00:00 -0400 CTF blog: ".....Following a keynote on the mTOR drug target by David Sabatini (MIT), was a session on NF2 mouse and fly models. Marco Giovannini (House Ear Institute) shared updates on mouse NF2 tumor model development and drug screening studies through the CTF NF Preclinical Consortium. Novartis drug BEZ-235, a PI3K/mTOR inhibitor, yielded some modest tumor shrinkage data in NF2 tumor xenograft models. Diving deeper into NF2 signaling, Helen McNeill (Toronto) and Duojia Pan (John Hopkins) reviewed recent developments in understanding regulation of the Hippo kinase pathway (the merlin signaling pathway in flies). Dr. McNeill discussed Fat cadherins, a newly identified signal that contributes to the Hippo pathway, can directly regulate Hippo pathway downstream element Yorkie and may also have a role in human merlin signaling......" http://www.ctf.org/blog/992-nf-conference-day-3.html Sun, 13 Jun 2010 11:00:00 -0400 CTF blog: ".....This morning began bright and early with a committee meeting of the Children’s Foundation Clinical Care Advisory Board which, amongst other activities, oversees our NF Clinic Network and is this summer charged to take forward our patient Registry and BioBank for an anticipated launch in late 2010......Today’s agenda began and ended with a focus on NF2 molecular signaling and the challenges that lie ahead to fully understand it. The morning opened with presentations from Andi McClatchey (Harvard Medical School), Helen Morrison (Institute for Aging) and Filippo Giancotti on the signaling mechanisms of merlin in the cell cytoplasm and nucleus (an important topic that was covered by the same individuals at the Las Vegas meeting last month). However the NF2 highlight of the day was a late-afternoon panel discussion ‘New Frontiers in NF2 Research’ chaired by Dr. Jon Chernoff (Fox Chase Cancer Center) and featuring Dr. McClatchey, Giovanni and Giancotti as well as Dr. Gareth Evans (Manchester), Dr. Vijaya Ramesh (Harvard) and Dr. Oliver Hanemann (Plymouth). Panel members each presented a slide on something they felt was important for the NF2 community at large to pay attention to in order to advance our understanding of NF2 biology and ultimately find effective drug therapies. These included the need to better understand merlin protein biochemistry and its full variety of binding interactions whether these are in the nucleus or in the cytoplasm; a call to spend more time testing drugs on human tumor cells; the need to fully evaluate all of the mutations in the NF2 gene and their consequences......." http://www.ctf.org/blog/991-nf-conference-day-2.html Sun, 13 Jun 2010 11:00:00 -0400 CTF blog: "..... The first patient representative to speak at the 2010 NF Conference, Tracy Galloway shared her family’s experience of her teenage daughter’s diagnosis with NF2, and how she has responded with such determination to accelerate research in any way she can. Communication and sharing between researchers, she noted, is absolutely critical. Dr. Brad Welling (Ohio State University) provided a terrific overview for the group of the recent NF2 meetings in Las Vegas (which we covered extensively in the May blogs). Further NF2 trial reports will come later in the NF Conference, so stay tuned!" http://www.ctf.org/blog/990-2010-nf-conference-day-1.html Sun, 13 Jun 2010 11:00:00 -0400 "Lynne created this movie to help raise awareness for NF2." http://www.youtube.com/watch?v=SxGOBQIdNhE&feature=related Sun, 13 Jun 2010 11:00:00 -0400 Full review of the 2009 NF Conference in Portland OR. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818482/ Mon, 25 May 2010 21:00:00 -0400 Excellent and current article on NF2. Corresponding author: D Gareth R Evans. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708144/ Mon, 25 May 2010 21:00:00 -0400 Table of Contents (relevant items): What are the neurofibromatoses? What is NF2? What are the signs and symptoms of NF2? When do symptoms appear? What is the prognosis for someone with NF2? How is NF2 treated? Are there prenatal tests for the neurofibromatoses? What research is being done on the neurofibromatoses? How can I help research? Where can I get more information? http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm Thu, 20 May 2010 20:00:00 -0400 Table of Contents: What is Neurofibromatosis? Is there any treatment? What is the prognosis? What research is being done? Clinical Trials, Organizations, Related NINDS Publications and Information, Publicaciones en Español, Additional resources from MEDLINEplus http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm Thu, 20 May 2010 20:00:00 -0400 Join MulLica twp. residents Jaime and Jim Cirillo on Sunday July 11th, as they ride for a cure! All proceeds from this ride and benefit will go to research funding to help find a cure for NF (NF Inc. and Advocure NF2 Inc). For more information please call either Jaime or Jim at (609) 965~0848. Thank you!!! with your help, we will find a cure for Neurofibromatosis. Also on Facebook, "First Annual South Jersey Ride4NF Poker Run/Benefit". http://www.wix.com/fredbag/tapped-out Mon, 10 May 2010 10:00:00 -0400 "After two very exciting but very long days of 'NF2: State of the Art', CTF kept about 20 scientists and clinicans on for a small workshop: 'NF2: State of the Trial'. The background to this is that in 2007, CTF convened an expert NF2 group to figure out how we could accelerate NF2 clinical trials (at that time, not much was going on, certainly less than today). The outcome recommendations from this meeting - detailing how NF2 trials could be effectively done - were published in 2009 but were acted on much sooner by the docs, with the inception of clinical trials of bevacizumab (Avastin) Phase II, PTC 299 Phase II, and lapatinib Phase Zero as well as significant advancements in preclinical drug testing. Therefore we felt it to be time to reconvene the experts to ask are we doing as much as we can? What recommendations if any need to be updated? And, what resources are needed from CTF and other agencies (DOD, NIH) to support this? The outcome recommendations from the workshop are still to be distilled but in brief the group, under the auspices of CTF, is going to be publishing an UPDATE to the clinical trial recommendations just published last year - such has been the pace of progress! Looking ahead CTF will also be driving much more communication and collaboration between the 'mouse guys' and the 'clinical guys' - cross talk that will be essential to keep drilling and find the next promising drugs. Meningioma trials were discussed as a future focus in addition to further vestibular schwannoma focused trials. The NF2 clinicians are commited to commencing all-important discussions with the FDA, important to help this agency be familiar with NF2 in asvance of submitting drug applications. And importantly the group assembled has pledged to meet again one year from now and annually thereafter. It has been a terrific few days of NF2 meetings and everyone left today feeling truly inspired about the future of NF2 trials. Look for a full report on the meeting soon at www.ctf.org!" http://www.ctf.org/blog/902-ctf-nf2-trial-workshop-yields-guideline-updates-new-collaborations.html Thu, 6 May 2010 16:00:00 -0400 "Note [from CTF]: apologies for not posting these Day 2 blogs earlier. Meetings were back to back today! An indicator of the huge amount of information exchange..... The majority of this morning’s presentations focused on auditory rehabilitation using devices including the auditory brainstem implant (ABI), the more recently developed penetrating ABI, and the cochlear implant. The ABI was pioneered at the House Ear Institute, and Dr. William Hitselberger from that institution was honored with a Lifetime Achievement Award Monday evening to recognize a career that included his pioneering role in ABI development. Use of ABI has now expanded around the world; overall, ABI implantation is deemed a safe procedure, though interestingly different clinics report not only different approaches to implantation but also different success rates in restoration of hearing function. Particular success in hearing restoration in adults has been accomplished by Dr. Vittorio Colletti in Europe, while Dr. Liliana Colletti reported successful implantation of ABIs into young children in Italy. Dr. Pamela Roehm from NYU Langone reviewed data from the literature and from her own center regards experience with cochlear implants in NF2 patients. Observations included: implantation of cochlear implant at time of tumor removal appears to be a successful approach, though implanting a cochlear implant when hearing is still functional in contralateral ear may not yield the best long term results. Group discussions raised the possible value of developing a combined cochlear implant - auditory brainstem implant device. The morning was rounded out by a controversial topic, use of radiosurgery for the treatment of schwannoma. Dr. John Adler (Stanford University) reported from the perspective that radiosurgery can be useful in treatment of NF2 schwannomas though not always with results as successful as sporadic schwannomas. He proposed that what is needed is an NF2 database to include outcomes of borth microsurgery and radiotherapy to provide a fair comparison. Simon Lloyd, a late addition to the agenda, shared analysis of a small database of this nature from Manchester, which in a preliminary analysis suggested radiosurgery is overall less effective in controlling tumor growth and does carry risks including potential increased hearing loss and tumor regrowth..... This afternoon focused on ‘Future Frontiers of NF2 Management’. The first three presentations focused on an NF2 and schwannomatosis genetics update (Ludwine Messiaen), an overview of England’s new NF2 national clinical management system (Sue Huson) and utility of three-dimensional imaging in NF2 management (Gordon Harris). Moving on to candidate therapeutics, I gave a presentation on behalf of CTF offering some thoughts on issues the NF2 community should now be focused on as trials advance, including engaging industry, working with the FDA, and building links between preclinical researchers and clinical trialists. Marco Giovannini then provided a summary of his ongoing NF2 preclinical drug screening in the NF Preclinical Consortium and drug targets of interest including erbB, PI3 kinase and Akt. Harry Miao of PTC Therapeutics provided an overview of the ongoing Phase II clinical trial of PTC-299 in vestibular schwannoma. This trial is underway and has some positive but very preliminary indications of tumor shrinkage (notably vascular shrinkage). Scott Plotkin reviewed the status of the bevacizumab (Avastin) trial. This has doubled from the original 10 patients published last summer, and results continue to look promising with tumor shrinkage and some regained hearing, though responding tumors do re-grow when drug is stopped. In an exciting development, looking ahead, later in 2010 a second trial is set to commence in to give bevacizumab to children with NF2 who are 12 years and older. 'NF2: State of the Art' closed with a terrific sense of promise and a commitment from the organizers to convene again in 2011. This evening we convened a smaller group for 'NF2: State of the Trial' to continue through tomorrow. This expert group will provide recommendations for programs to further accelerate NF2 trials. Higlights from this meeting will follow in a blog in a few days!" http://www.ctf.org/blog/899-nf2-state-of-the-art-afternoon-of-day-2.html Wed, 5 May 2010 13:00:00 -0400 "'NF2: State of the Art’ got off to an exciting start this morning. Gareth Evans opened the day with a talk on NF2 genetics, and speculated that though the generation of merlin protein from the NF2 gene is truncated when there is a nonsense mutation, nevertheless some protein must be made that is able to bind to ‘healthy’ NF2 protein, resulting in tumor growth. A trio of talks from Andi McClatchey, Helen Morrison and Filippo Giancotti focused on the cellular and molecular basis of NF2. These reviewed mechanisms of cell growth regulation by different functional domains and forms of merlin protein at the cell membrane and also in the nucleus, opening up a diverse array of candidate drug targets for NF2 drug therapies. In an intriguing presentation, Anat Stemmer-Rachamimov reported data from an examination of tumorlets taken from NF2 patients. Tumorlets are tiny tumors embedded in the nerve and often identified only at time of autopsy, but are believed to be the predecessor from which full blown NF2 vestibular schwannomas develop. A comparison of tumorlets and vestibular schwannomas from NF2 patients and seen quite a difference in genes expressed between the two tumor types. This may help unravel and separate out the signals that trigger the initiation, and then the advancement of growth, of NF2 tumors. Switching late morning to NF2 tumor management presentations, Bill Slattery and Michel Kalamarides presented natural history studies from the United States and France, respectively. Natural history studies provide an opportunity to follow the natural progression of NF2 tumor growth etc. so that appropriate clinical management strategies can be developed. There were a number of common features, notably the left and right vestibular schwannoma in a person will usually have independent growth rates. There was discussion about spinal tumors and whether these are likely to grow and require treatment. A percentage of patients will have spinal tumors requiring surgery often because of cord compression. Certain spinal tumors such as ependymomas may be largely inactive but potentially could be a concern in older adults. Dr. Karajannis and John Golfinos focused on meningiomas in NF2 patients. These are likely to be more problematic than sporadic meningiomas, should be very closely monitored, and when operated on the whole brain picture needs to be understood to consider which meningioma areas are likely to require surgery next. More to follow – please follow us on Twitter for ‘real time’ updates from the meeting!...... After a packed morning and a very late lunch, this afternoon began with one of the most fascinating sessions of the conference, a presentation of individual challenging NF2 cases, and an expert panel discussion on how those patients should be managed. Debate developed around meningioma management, whether to intervene by removing a spinal tumor not currently presenting problems but with the potential to do so, and other topics. Interestingly with the emergence of bevacizumab as the first potentially promising drug therapy for NF2 (more on this tomorrow), discussions for the neurosurgeons are expanding beyond, ‘should we operate or watch and wait?’ to include ‘ would this patient be appropriate for the drug bevacizumab?’ It is exciting to hear surgeons thinking in this way, and as more candidate NF2 drugs come on line, potential alternatives to surgery will continue to expand. The afternoon closed out with a presentation from Rachael Hornigold describing a new NF2 Severity Score being developed in the United Kingdom. The Score takes into consideration both clinician and patient measures; currently 31 questions, the Score aims to get down to just 10 questions making it easy to use by any clinic. Interestingly when interviewed, NF2 patients said the two factors impacting most on their lives were facial paralysis and balance, features they felt set them apart from other people. More to follow! Follow us on Twitter for 'live' meeting updates!" http://www.ctf.org/blog/897-nf2-state-of-the-art-afternoon-of-day-1.html Mon, 3 May 2010 22:00:00 -0400 "Hi! I am Jaime, I made this movie, I also am 33 and have Nf2, and have one functioning eye. You can find us at NF2Crew.org." http://www.youtube.com/watch?v=O_ESM6J8nX4 Wed, 21 Apr 2010 13:00:00 -0400 "NF2 research activity, especially in the area of testing candidate drug treatments has increased significantly in the past several years. This has been driven in part by [CTF] publication in 2009 of consensus documents on NF2 clinical trials and drug pipeline in Clinical Cancer Research, based on an expert workshop convened by the Foundation. We currently fund a significant amount of NF2 research ‘from bench to bedside’ – an indicator of the exciting progress made in NF2 recently in understanding the underlying biology and then applying this to finding effective drug therapies. Importantly CTF is hosting an expert workshop in May 2010 to evaluate progress to date in NF2 clinical trials and how these can be further accelerated,.... The Foundation was a co-supporter of the groundbreaking pilot Phase II trial of Bevacizumab (Avastin) which caused vestibular tumor shrinkage, restored hearing and was published in New England Journal of Medicine in July 2009,.... One of our first Clinical Trial Award recipients in 2009 was Jaishri Blakeley (Johns Hopkins University), receiving $125,000 to do a Phase Zero NF2 clinical trial of the drug Lapatinib, currently in progress,.... Outside of CTF funding, a Phase II NF2 trial of note is underway at Massachusetts General Hospital to assess drug PTC-299 in patients. This trial is co-supported by CDMRP NFRP and PTC Therapeutics,.... Through the Foundation’s NF Preclinical Consortium, a $4M multi-year initiative to accelerate promising candidate drugs to the clinic, the laboratories of Andrea McClatchey (Harvard/ Massachusetts General Hospital) and Marco Giovannini (House Ear Institute) are testing a pipeline of NF2 drugs, in collaboration with Novartis, Genentech and Avila Therapeutics,.... In one of our first Drug Discovery Initiative Awards, in 2006, Oliver Hanemann (University of Plymouth) received $11,000 to test the drug Sorafenib on human NF2 schwannoma cells in culture. Positive data emerging from this study has led to planning of a Phase II European clinical trial." http://www.ctf.org/blog/885-nf-bites-progress-in-nf2-part-two-developing-drug-therapies.html Sun, 18 Apr 2010 13:00:00 -0400 Funding Overview - NINDS (at NIH) supports and conducts research, both basic and clinical, on the normal and diseased nervous system, fosters the training of investigators in the basic and clinical neurosciences, and seeks better understanding, diagnosis, treatment, and prevention of neurological disorders. http://www.ninds.nih.gov/funding/index.htm Wed, 14 Apr 2010 13:00:00 -0400 NIH's new 'Therapeutics for Rare and Neglected Diseases' program (TRND). ..."NIH is considering initiating projects with promising drug candidates that are stalled in development for which there are clinical data, or for which a data package could be generated and compiled into an Investigational New Drug (IND) submission within one year of transfer of the project to TRND. Responses to this RFI will be used to formulate a Request for Proposal (RFP) to acquire drug programs, expected to be published in May, 2010 with a proposal submission deadline in June, 2010."... https://rarediseases.info.nih.gov/TRND/ Wed, 14 Apr 2010 13:00:00 -0500 NORD's Research Grant Program provides seed money in small grants to academic scientists studying new treatments or diagnostics for rare diseases. The clinical researchers supported by NORD's research grants provide preliminary data indicating that a treatment (drug, device, or medical food) may be safe and effective when used for a larger number of patients. Researchers can then use the preliminary data to apply for larger multi-year government grants or to attract a commercial sponsor who will manufacture an orphan product and get it approved for marketing by the U.S. Food & Drug Administration (FDA). http://rarediseases.org/research/researchgrants Wed, 14 Apr 2010 13:00:00 -0500 The Central Brain Tumor Registry of the United States, CBTRUS, is a not-for-profit corporation committed to providing a resource for gathering and disseminating current epidemiologic data on all primary brain tumors, benign and malignant, for the purposes of accurately describing their incidence and survival patterns, evaluating diagnosis and treatment, facilitating etiologic studies, establishing awareness of the disease, and ultimately, for the prevention of all brain tumors. http://www.cbtrus.org/index.html Wed, 14 Apr 2010 13:00:00 -0500 The Children's Tumor Foundation (CTF) has developed the Neurofibromatosis Clinical Trial Awards of up to $125,000 total, to support pilot-scale clinical testing of potential candidate therapeutics for the treatment of tumors and other manifestations of NF1, NF2 or Schwannomatosis. http://www.ctf.org/For-Scientists/nf-clinical-trial-award.html Wed, 14 Apr 2010 13:00:00 -0500 Apply for a grant - In order to fund the most promising research, the National Brain Tumor Society offers grants to qualified researchers each year. Applications are put through a rigorous review process based on NIH's objective scientific peer review. http://www.braintumor.org/ApplyForAGrant/ Wed, 14 Apr 2010 13:00:00 -0500 The Childhood Brain Tumor Foundation (CBTF) is soliciting grant applications for the calendar year 2010. http://www.childhoodbraintumor.org/index.php/grants.html Wed, 14 Apr 2010 13:00:00 -0500 Listing of ABTA 2010 Funding Opportunities, and other sources. http://www.abta.org/Research_Progress/ABTA_2010_Funding_Opportunities/292 Wed, 14 Apr 2010 13:00:00 -0500 "We have recently reported updates on the underpinnings of merlin, the protein encoded by the NF2 gene. Understanding merlin’s normal function, and how this is disrupted in individuals with NF2, is important in order to figure out what drugs might be effective in treating NF2. Now a new study* done if fruit flies shows that inside the cell merlin moves up and down on structures call microtubules, which form a scaffolding framework that controls changes in cell shape as well as function. In a stunning finding the study shows that a single amino acid change – the tiniest substitution in how merlin is encoded – markedly inhibits this movement, apparently by interfering with phosphorylation of merlin. In addition when present, this dysfunctional protein also prevented healthy merlin protein from moving around. It has been an interesting year already in reports on merlin function and we are delighted to have a session of the NF Conference focused on this topic – we look forward to some lively debate." http://www.ctf.org/876-for-nf2-more-insight-on-merlin-protein-wizardry.html Fri, 9 Apr 2010 16:00:00 -0500 "The neurofibromatosis type 2 (NF2) tumor-suppressor protein Merlin is a member of the ERM family of proteins that links the cytoskeleton to the plasma membrane. In humans, mutations in the NF2 gene cause neurofibromatosis type-2 (NF2), a cancer syndrome characterized by the development of tumors of the nervous system......" http://www.pnas.org/content/early/2010/03/29/0907389107.abstract?related-urls=yes&legid=pnas;0907389107v1 Fri, 9 Apr 2010 16:00:00 -0500 "NF2 research activity, especially in the area of testing candidate drug treatments has increased significantly in the past several years. This has been driven in part by our publication in 2009 of consensus documents on NF2 clinical trials and drug pipeline in Clinical Cancer Research, based on an expert workshop convened by the Foundation. We currently fund a significant amount of NF2 research ‘from bench to bedside’ – an indicator of the exciting progress made in NF2 recently in understanding the underlying biology and then applying this to finding effective drug therapies." http://www.ctf.org/875-nf-bites-progress-in-nf2-a-part-one.html Thu, 8 Apr 2010 20:00:00 -0500 "...Wei Li (Memorial Sloan-Kettering Cancer Center) has shown that merlin, the protein product of the NF2 gene, has a unique role in the cell nucleus. This work is published in leading journal 'Cell' in February 2010 and will inform future NF2 drug design. Young Investigator Awardee Timmy Mani (University of Cincinnati) is examining a cell element called PIP2 as a candidate NF2 drug target. His promising data published in Molecular and Cell Biology in early 2010. Young Investigator Awardee Chunling Yi (The Wistar Institute) is developing candidate treatment approaches for NF2 tumors focused on targeting merlin signaling as well as function of a protein called angiomotin; this is in progress. ...." http://www.ctf.org/875-nf-bites-progress-in-nf2-a-part-one.html Thu, 8 Apr 2010 20:00:00 -0500 "... Andrea McClatchey (Harvard/Massachusetts General Hospital) and Marco Giovannini (House Ear Institute) have received funding through the Foundation’s Drug Discovery Initiative Awards to test pan-erbB inhibitor CNX-222 from Avila Therapeutics in NF2 genetic mouse models and human xenograft models; and to test NXD30001, a novel Hsp90 inhibitor from Nexgenix Pharmaceuticals in mouse models of human NF2 vestibular tumor xenografts. This work is underway. ...." http://www.ctf.org/875-nf-bites-progress-in-nf2-a-part-one.html Thu, 8 Apr 2010 20:00:00 -0500 "...Abraham Jacob (Ohio State University) received a Drug Discovery Initiative Award to test Akt inhibitor drug OSU-03012 in an NF2 vestibular schwannoma xenograft model. The drug showed promising data, inhibiting tumor cell growth. This data was published in the European Journal of Cancer and the drug is now in commercial development as AR-12 by Arno Therapeutics...." http://www.ctf.org/875-nf-bites-progress-in-nf2-a-part-one.html Thu, 8 Apr 2010 20:00:00 -0500 "...Joseph Kissil (The Wistar Institute) received a Drug Discovery Initiative Award to optimize NF2–targeting Pak inhibitors building on information as to how drug binds to receptor....." http://www.ctf.org/875-nf-bites-progress-in-nf2-a-part-one.html Thu, 8 Apr 2010 20:00:00 -0500 "...Marianne James (Harvard /Massachusetts General Hospital) has received a Drug Discovery Initiative Award to test mTOR inhibitors rapamycin, Torin1 and PI-103 on NF2 meningioma cells as candidate drug therapies." http://www.ctf.org/875-nf-bites-progress-in-nf2-a-part-one.html Thu, 8 Apr 2010 20:00:00 -0500 "...We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that results in loss of protein expression (large deletions) to elucidate further genotype-phenotype correlations in NF2...." http://www.ingentaconnect.com/content/mksg/cge/2010/00000077/00000002/art00011 Tue, 30 Mar 2010 13:00:00 -0500 Sunday May 2nd, 2010. Radisson Hotel East in Toronto, Canada. 3-6pm. Topics include: new potential NF2 drug trial - “A potential Biological Agent for Vestibular Schwannomas: Bench to Bedside”, NF2 research, probable NF Clinic (Toronto). http://www.nfon.ca/events_calendar.php Tue, 30 Mar 2010 13:00:00 -0500 Clinical Trial Award, Investigator-Initiated Research Award, Investigator-Initiated Focused Research Award, Exploration - Hypothesis Development Award, New Investigator Award, and Postdoctoral Traineeship Award. Pre-Application deadline: April 29, 2010. Application deadline: May 20, 2010 http://cdmrp.army.mil/funding/nfrp.htm Wed, 24 Mar 2010 22:00:00 -0500 The award of U.S. federal funds to support any of these proposals is contingent upon successful negotiations and applicable federal policy. http://cdmrp.army.mil/nfrp/awards.htm Wed, 24 Mar 2010 22:00:00 -0500 ...Details on research resources available to the scientific community are located on this website under New Research Resources Initiative by the NFRP. The goal of this initiative is to facilitate and speed NF research by publicizing new resources and aiding collaborations. Research results focus primarily on cell biology, molecular biology, and technology and resource development. Recent highlighted research is located on this website under Research Highlights and Consumer Highlights and in the Annual Report..... http://cdmrp.army.mil/pubs/factsheets/nfrpfactsheet.htm Wed, 24 Mar 2010 22:00:00 -0500 The story will focus on three individuals with NF. Phil 16 years old with NF1 from Colorado. Bekah, 19 years old with NF2 from Illinois and Amber 20 years old with NF 1 from Texas. Mark your calendars to watch True Life on April 26, 2010 at 10:00 PM Pacific time and Eastern Time, 9:00 Central. http://www.inspire.com/groups/neurofibromatosis-inc/discussion/nf-on-mtv/ Wed, 24 Mar 2010 22:00:00 -0500 If you are traveling to, or live near one of these areas, please join us for some walking, family fun and even some education. http://campaign.constantcontact.com/render?v=0018iMS5L3VR6PMvYoYIgqFft3wfk1TIONqJ58WtXRrj97nL8FH78UL9nnMEiocGmbKCYCKI7Hi6n5ae92MGccJEEl2svQV7bPLgmveQIE4LfU%3D Wed, 24 Mar 2010 22:00:00 -0500 Goat antibodies were raised against purified, E. coli-derived recombinant human NF2 (rhNF2; aa 363 - 578; Accession # P35240)..... This antibody will detect human NF2 in cells and tissues. http://www.rndsystems.com/pdf/AF5616.pdf Sun, 14 Mar 2010 13:00:00 -0500 The 7th annual Ohio Gathering, for NF2ers, will be held Oct. 8-10 in Columbus, Ohio. http://www.nf2crew.com/Events.html Sun, 14 Mar 2010 13:00:00 -0500 The Center for Paralysis Research was founded to both develop and test new methods of treatment for spinal cord, brain injuries, and certain diseases of the nervous system. http://www.vet.purdue.edu/cpr/ Sat, 13 Mar 2010 11:00:00 -0500 Neurofibromatosis, Inc.-Mid-Atlantic is requesting proposals for research projects in neurofibromatosis (NF1 or NF2) or schwannomatosis. The research must lead to a better understanding of the cause, treatment or prevention of NF or enhance the quality of life of those with NF1, NF2 or schwannomatosis. Amount: up to $50,000. Period: 1 to 2 years. Deadline: July 1, 2010. http://www.nfmidatlantic.org/ Fri, 12 Mar 2010 22:00:00 -0500 A team of engineers from the CEIT-IK4 technological centre and doctors from the University Hospital of Navarra have designed a new tool for operating on the inner ear with maximum precision, reducing the possibility of damage to the auditory function during the surgery. http://www.sciencedaily.com/releases/2010/03/100312091403.htm Fri, 12 Mar 2010 22:00:00 -0500 The NF Community lost an important friend and advocate when Congressman John Murtha recently passed away. As Chairman of the House Defense Subcommittee, Murtha fought to keep NF included in the DOD's Congressionally Directed Medical Research Program (CDMRP). Without an NF Champion in the House, funding for this critical research could be reduced, or even eliminated! Now is the time to write to your Representative in Congress to urge them to support NF research. A sample letter to your Representative in the House is available for you to personalize. Ask them to sign on to a "Dear Colleague" letter that is being circulated in the House. If you don't tell your Representative that NF research is important to you, they won't know! http://www.nfincne.org/events/detail.asp?id=99 Fri, 12 Mar 2010 22:00:00 -0500 CTF's Young Investigator Awardee Geoffrey Kilili and his mentor Dr. John Kyriakis at Tufts University have uncovered novel ideas about the signaling pathways of merlin, the tumor suppressor protein made by the NF2 gene. http://www.ctf.org/863-ctf-nf2-young-investigator-finds-dual-role-for-human-a-hippoa.html Thu, 11 Mar 2010 16:00:00 -0500 A primary human in vitro model to test and translate new therapies for Neurofibromatosis type 2 (NF2) tumours into clinical trials. http://www.scienceroom.org/neurofibromatosis Thu, 11 Mar 2010 12:00:00 -0500 At Harvard Med School / Mass. General Hospital (MGH). Research topics include: vaascular physiology of neurofibromatosis type 2 tumors. Director: Emmanuelle di Tomaso, Ph.D. http://www.massgeneral.org/cancer/research/researchlab.aspx?id=1208# Tue, 09 Mar 2010 15:00:00 -0500 Sunday, May 2, Oakhurst Country Club - Grove City, OH. Please join us for an afternoon of hors d'oeuvres and drinks featuring a raffle and auction, with all proceeds benefiting the Children's Tumor Foundation's (CTF) DDI NF Preclinical Consortium. Jack Hanna of the Columbus Zoo and Aquarium will be making a special guest appearance and performing a show with a number of animals. http://www.active.com/donate/2010benefitfornf2 Tue, 09 Mar 2010 15:00:00 -0500 Trek to the Roof of Africa and Help Raise Awareness for NF2! Click for details. http://climbfornf2.org/ Tue, 09 Mar 2010 15:00:00 -0500 INSIDE THIS EDITION: The NF2 Weekend, Facial Rehabilitation, Hearing Support, Fundraising News! http://www.nfauk.org/uploads/September%202009.pdf Mon, 01 Mar 2010 14:00:00 -0500 WHY WE DO RESEARCH AND WHERE WE ARE. Presented by: James Gusella, PhD http://www.cnfad.org/2008%20Symposium/Agenda%20and%20Faculty_files/Gusella%20Talk.html Mon, 01 Mar 2010 14:00:00 -0500 The Children’s Tumor Foundation is currently planning the implementation of both an NF patient registry and NF tissue biobank which we aim to launch in 2010. In January, the Children’s Tumor Foundation will join with a number of other Foundations in an NIH-led meeting to plan for a collaborative patient registry that includes multiple diseases. http://www.ctf.org/798-patient-registry-a-a-vital-tool-for-research-progress.html Fri, 26 Feb 2010 19:00:00 -0500 Dr. Giovannini discusses neurofibromatosis type II (NF2) and the research underway in his lab (Center for Neural Tumor Research) at the non-profit House Ear Insitute. http://newsroom.hei.org/pr/hei/electronicplay.aspx?fid=66597&id=E0C8537 Fri, 26 Feb 2010 19:00:00 -0500 The Neurofibromatosis Association is the UK's leading authority on Neurofibromatosis and we provide a range of support services to help the individual, their families and the professionals working with them. http://www.nfauk.org/nf/18 Fri, 26 Feb 2010 12:00:00 -0500 People with NF2 commonly report fatigue or extreme tiredness. This often follows treatment for a brain tumour and can continue even after you have fully recovered from the surgery. Whilst there is still uncertainty about the exact cause, there are several theories. Some researchers believe that it might be related to the energy that your body needs to recover from or to fight the illness. Others believe that it might be related to interruptions in the signals sent through the nervous system. A low blood count, sleep disturbances, depression, poor nutrition, infection or medication side-effects can all contribute to these feelings. http://www.nfauk.org/uploads/Coping%20with%20fatigue%20in%20NF2.pdf Fri, 26 Feb 2010 12:00:00 -0500 Much of the information in this Fact Sheet has been taken from a talk given by a mother of a young person who has NF2. http://www.nfauk.org/uploads/Communication%20and%20NF2.pdf Fri, 26 Feb 2010 12:00:00 -0500 Our balance is maintained through the interaction of the visual, vestibular and sensory systems. These systems function individually and in combination with each other. We can experience imbalance if there is a disturbance of any one of these systems. http://www.nfauk.org/uploads/Understanding%20balance%20in%20NF2.pdf Fri, 26 Feb 2010 12:00:00 -0500 This is a complex and technical topic and the subject of contention between clinicians. The aim of this fact sheet is therefore to attempt to define some of the terms commonly encountered and explain the differences in techniques. There is also a description of what a Gamma Knife treatment in Sheffield involves and the results which are achieved specifically in NF2. Commonly raised concerns about radiation treatments are then addressed.. http://www.nfauk.org/uploads/NF2%20-%20Stereotactic%20surgery%20&%20Radiotheraphy.pdf Fri, 26 Feb 2010 12:00:00 -0500 Speech difficulties experienced by people with NF2 fall into two categories; 1/ Those associated with loss of hearing, 2/ Those associated with damage to nerves involved in speech production. http://www.nfauk.org/uploads/Speech%20difficulties%20with%20NF2.pdf Fri, 26 Feb 2010 12:00:00 -0500 This fact sheet is mainly for people who have Neurofibromatosis Type 2, their relatives friends and professionals involved in their care. It will give some basic information about NF2 and we hope that you can use the information to ask more questions of the specialist who is treating you. http://www.nfauk.org/uploads/NF2%20Information%20for%20Patients%20&%20Professionals.pdf Fri, 26 Feb 2010 12:00:00 -0500 FY10 Neurofibromatosis Research Program (CDMRP NFRP) funding opportunities now available. http://cdmrp.army.mil/funding/nfrp.htm Thu, 25 Feb 2010 12:00:00 -0500 1/ Dr. Andrea McClatchey (Harvard/MGH) to screen pan-ErbB inhibitors in NF2 tumor cells and mouse models. Pan-ErbB inhibitors target the growth factor receptor EGFR and related cell receptors..... 2/ Dr. Marco Giovannini (HEI) will screen drugs that target the cellular element hsp90 in mouse models of NF2 tumors. Hsp90 is an important cell element in stabilizing tumor-promoting proteins..... 3/ Dr. Joseph Kissil (The Wistar Institute) will screen newly created chemical entities to block p21-activated kinases (PAKs), a promising drug target for NF2 tumor treatment. Dr. Kissil will use an approach of chemical modification that allows tiny changes to be made to a promising drug to optimize its efficacy http://www.ctf.org/For-Scientists/drug-discovery-initiative-grants-test-new-approaches-to-nf2-therapies.html Sun, 21 Feb 2010 12:00:00 -0500 Merlin/NF2 Suppresses Tumorigenesis by Inhibiting the E3 Ubiquitin Ligase CRL4DCAF1 in the Nucleus. http://www.cell.com/abstract/S0092-8674(10)00064-4 Fri, 19 Feb 2010 11:00:00 -0500 .....major advances have been made recently to unravel the functioning of merlin...... http://www.ctf.org/844-ctf-funded-breakthrough-nf2-research-published-in-top-journal-cell.html Thu, 18 Feb 2010 00:00:00 -0500 Last July the drug bevacizumab (Avastin) was reported to show promise in shrinking NF2 vestibular schwannomas, with some improved hearing seen in patients....Meanwhile New York University (NYU) has initiated a Phase II clinical trial of lapatinib (Tykerb) for vestibular schwannomas....This continues on the path of an ongoing Phase Zero trial of lapatinib in NF2 (OSU, HEI, NYU) currently funded by CTF ....Also of note in this area is the ongoing NF2 clinical trial of drug PTC299 at Massachusetts General Hospital. http://www.ctf.org/842-nf2-clinical-trials-update.html Wed, 17 Feb 2010 00:00:00 -0500 Findings from Massachusetts General Hospital advance knowledge in meningioma therapy http://www.newsrx.com/newsletters/Biotech-Week/2010-02-17/6021720104849UW.html Wed, 17 Feb 2010 00:00:00 -0500 The mission of the CERN Foundation is to develop new treatments for ependymoma. http://www.cern-foundation.org/Default.aspx Tue, 2 Feb 2010 00:00:00 -0500 Transcript of the BCNF's NF2 and Swannomatosis Information Day http://bcnf.bc.ca/linked/NF2_Information_Day_June_09.pdf Mon, 1 Feb 2010 00:00:00 -0500 Ivermectin inactivates the kinase PAK1 and blocks the PAK1-dependent growth of human ovarian cancer and NF2 tumor cell lines, Drug Discov Ther. 2009; 3(6):243-246. http://www.ddtjournal.com/getabstract.php?id=264 Fri, 22 Jan 2010 00:00:00 -0500 "Surgeons from UC Davis Medical Center have demonstrated that artificial muscles can restore the ability of patients with facial paralysis to blink, a development that could benefit the thousands of people each year who no longer are able to close their eyelids due to combat-related injuries, stroke, nerve injury or facial surgery." http://www.disabled-world.com/assistivedevices/prostheses/artificial-eye-muscles.php Wed, 20 Jan 2010 00:00:00 -0500 The Center for Neural Tumor Research at House Ear Institute (HEI) has a mission of understanding the cellular and molecular basis of neurofibromatosis type 2-related tumorigenesis as well as developing translational tools relevant for the treatment of the disease. For further information, please contact: Marco Giovannini, or (213) 353-7075, Fax:(213) 273-8088 http://www.hei.org/research/neural_tumor/index.html Tue, 19 Jan 2010 00:00:00 -0500 Fourth issue of Advocure's quarterly newsletter, FLUTTERBY, Winter 2010. Contains a partial listing of relevant clinical trials, studies, News, and symposiums involving NF2. http://www.advocurenf2.org/newsletter/FLUTTERBY_2010winter.pdf Sun, 10 Jan 2010 00:00:00 -0500 Potential NF2 Clinical Trial of Sorafinib in the UK. http://www.advocurenf2.org/00_news_Sorafinib.html 27 Dec 2009 00:00:00 -0500 From CTF's DDI toolbox: "....A candidate therapeutic, PTC124, is available from PTC Therapeutics for in-vitro testing.......Though there may be applications in all forms of NF, it is considered that there may be most relevance initially to NF2 where nonsense mutations account for a significant proportion of sporadic cases." http://stage.ctf.org/pdf/professionals/ddi/2007-07-005.pdf 27 Dec 2009 00:00:00 -0500 Advances in NF2 Clinical Trials. http://www.ctf.org/Living-with-NF/nf-research-overview-advances-in-nf2-clinical-trials.html 3 Dec 2009 00:00:00 -0500 "......Marco Giovannini (House Ear Institute) will test Avila Therapeutics drug pan-ErbB CNX-222 in schwannoma, and Marianne James (Harvard Medical School/Massachusetts General Hospital) will assess mTOR inhibitors in meningioma cells." http://stage.ctf.org/ 2 Dec 2009 00:00:00 -0500 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors, ClinicalTrials.gov Identifier: NCT00973739. http://www.clinicaltrials.gov/ct2/show/NCT00973739?term=nf2&rank=1 27 Nov 2009 00:00:00 -0500 New York Times article - "Breaching a Barrier to Fight Brain Cancer". http://www.nytimes.com/2009/11/17/health/17tumor.html?_r=1&partner=rss&emc=rss 17 Nov 2009 00:00:00 -0500 NF2 Bevacizumab Trial Stirs Discussion in New England Journal of Medicine. Blog by the Children’s Tumor Foundation (CTF). https://www.ctf.org/762-nf2-bevacizumab-trial-stirs-discussion-in-new-england-journal-of-medicine.html 10 Nov 2009 00:00:00 -0500 Bevacizumab [Avastin] induces regression of vestibular schwannomas in patients with neurofibromatosis type 2. http://neuro-oncology.oxfordjournals.org/cgi/content/abstract/nop010 0265BEC3-16AE-4316-A80B-0BD7BECCE0A4 1 Oct 2009 00:00:00 -0500 NF2 Clinical Trial Consensus Statement Published, "......Two of the candidate drugs listed in "Consensus recommendations to accelerate clinical trials for Neurofibromatosis type 2" are already in pilot trials. Dr. Scott Plotkin's work with Avastin was published in the New England Journal of Medicine in April [2009], and Tykerb is being tested in a Phase 0 trial led by Drs. Jashri Blakely, Alan Belzberg at Johns Hopkins, and Dr. Matthias Karajannis at NYU." http://www.ctf.org/604-nf2-clinical-trial-consensus-statement-published.html BB6CB9F6-CC51-495F-8A30-858F88B2F887 19 Aug 2009 00:00:00 -0500 Clin Cancer Res, "Consensus recommendations to accelerate clinical trials for Neurofibromatosis type 2" http://www.ncbi.nlm.nih.gov/pubmed/19671848?ordinalpos=1&itool=Email.EmailReport.Pubmed_ReportSelector.Pubmed_RVDocSum C9B7024B-319C-4F3A-AFD0-981223E797AA 15 Aug 2009 00:00:00 -0500 The 2009 NF Conference full report is now ready. Written by the Children's Tumor Foundation (CTF). http://www.ctf.org/images/pdf/2009nfconferencereport.pdf 1F4B1F2D-8220-45CF-9473-49653C818ACE 21 Jul 2009 00:00:00 -0500 Children's Tumor Foundation (CTF)'s blog (view by NF2 tag). http://www.ctf.org/View-by-tag/NF2/ D4B821A8-5509-4465-8C5F-ECE8CDC96979 21 Jul 2009 00:00:00 -0500 Boston Globe - "A drug’s unintended use restores the gift of hearing" http://www.boston.com/news/local/massachusetts/articles/2009/07/09/a_drug8217s_unintended_use_restores_the_gift_of_hearing/ FF14273F-288F-47D6-A375-A4774C27AB6C 9 Jul 2009 00:00:00 -0500 Science Daily - "Hearing Improved: First Successful Medical Treatment For Tumor-inducing Genetic Disorder" http://www.sciencedaily.com/releases/2009/07/090708181156.htm FBE4EFDC-B079-4F64-8D9A-1FCFE78BEE31 9 Jul 2009 00:00:00 -0500 Forbes - "Drug Shows Promise in Nervous-System Tumor Treatment." http://www.forbes.com/feeds/hscout/2009/07/08/hscout628844.html 70260ACA-7C20-4EA3-8256-AB8475DA2A93 8 Jul 2009 00:00:00 -0500 MedPage Today - "VEGF Inhibitor Shows Promise in Neurofibromatosis" http://www.medpagetoday.com/Oncology/OtherCancers/15008 23E24A2C-CBF4-43FB-AD8D-50085EEB9982 8 Jul 2009 00:00:00 -0500 The New England Journal of Medicine - "Hearing Improvement after Bevacizumab in Patients with Neurofibromatosis Type 2", Plotkin SR, et al. http://www.ncbi.nlm.nih.gov/pubmed/19587327 AA40C191-970D-4A14-9EC8-18BCDBBF5AF7 8 Jul 2009 00:00:00 -0500 The NF Science Roundup: Publication Highlights. Written by the Children's Tumor Foundation (CTF). http://www.ctf.org/For-Scientists-and-Clinicians/nf-science-roundup-publication-highlights-july-2009.html D08A2B31-B0F0-41EB-AC77-B4DD05F30194 1 Jul 2009 00:00:00 -0500 Interesting NF2 blog at Children's Tumor Foudation (CTF). http://www.ctf.org/For-Scientists-and-Clinicians/nf-science-roundup-publication-highlights-july-2009.html 65133173-E4D6-40F8-BE3F-C815B60A0199 1 Jul 2009 00:00:00 -0500 "Neurofibromatosis type 2 (NF2): A clinical and molecular review", Dr. Gareth Evans. http://www.ojrd.com/content/4/1/16 6DDAEC86-7D60-454A-BDA4-EF598C20DFE4 19 Jun 2009 00:00:00 -0500 NF2 & Schwannomatosis Info Day in Vancouver, BC, Canada. Hosted by British Columbia NF (BCNF). http://bcnf.bc.ca/events/first-ever-nf2-schwannomatosis-info-day/ 4B1F6C7E-A154-4C27-BE88-6CFB05664612 18 Jun 2009 00:00:00 -0500 2009 NF Conference in Portland, OR, USA. Hosted by the Children’s Tumor Foundation (CTF). Read the NF Conference's blog. http://www.ctf.org/For-Scientists/2009-NF-Conference/ 9ACA61F3-568B-41E7-834D-3BD3EE66D2C3 13 Jun 2009 00:00:00 -0500 Pioneering research brings cure for hearing loss one step closer. http://www.deafnessresearch.org.uk/Pioneering%20research%20brings%20cure%20for%20hearing%20loss%20one%20step%20closer+4950.twl 0A50655E-9DD0-4C2D-B55E-40FD09F6D01B 5 Jun 2009 00:00:00 -0500 PTC299 for Treatment of Neurofibromatosis Type 2, ClinicalTrials.gov Identifier: NCT00911248. http://clinicaltrials.gov/ct2/show/NCT00911248?term=nf2&rank=1 8A6C4CE8-79A2-48A1-AA1F-1F024AFA3A7B 1 Jun 2009 00:00:00 -0500 Concentration and Activity of Lapatinib in Vestibular Schwannomas, ClinicalTrials.gov Identifier: NCT00863122. http://clinicaltrials.gov/ct2/show/NCT00863122?term=nf2&rank=3 2C558B82-6BFB-4095-A713-FEE2F6819147 1 Jun 2009 00:00:00 -0500 Natural History Study of Patients With Neurofibromatosis Type 2, ClinicalTrials.gov Identifier: NCT00598351 http://clinicaltrials.gov/ct2/show/NCT00598351?term=NF2&rank=2 4EA570B0-26C9-4DCE-8709-832E22D8F627 1 Jun 2009 00:00:00 -0500 Monthly SOM230C for Recurrent or Progressive Meningioma, ClinicalTrials.gov Identifier: NCT00859040. http://clinicaltrials.gov/ct2/show/NCT00859040?intr=Pasireotide&rank=9 7D5B66EF-92EA-4FBD-B52E-FBBD3342A61D 1 Jun 2009 00:00:00 -0500 Sunitinib in Treating Patients With Recurrent or Unresectable Meningioma, Intracranial Hemangiopericytoma, or Intracranial Hemangioblastoma, ClinicalTrials.gov Identifier: NCT00561665 http://clinicaltrials.gov/ct2/show/NCT00561665?term=NF2&rank=7 50E4CE4A-53D7-4E1E-8914-A10C7119C6D7 1 Jun 2009 00:00:00 -0500 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma. ClinicalTrials.gov Identifier: NCT00589784. http://clinicaltrials.gov/ct2/show/NCT00589784?term=nf2&rank=9 6BE37335-7A58-4207-8D1E-66ED778208DE 1 Jun 2009 00:00:00 -0500 General but informative article on NF2. http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(09)60259-2/fulltext 7D95A92C-6247-4620-85CD-7D30B3031101 1 Jun 2009 00:00:00 -0500 On May 31, 2009 at 2-6pm, a 'Benefit for NF2' will be held at the Oakhurst Country Club in Grove City OH. All proceeds benefiting the Children’s Tumor Foundation's NF Preclinical Consortium. http://www.active.com/donate/BenefitforNF2 842D4281-D7E8-4400-B06D-F405D6FE8169 31 May 2009 00:00:00 -0500 Brain Science Foundation Pledges $1.5 Million Towards Brain Tumor Research in 2009. New Drug Therapies for Meningioma. Phase II trial of sunitinib (Sutent). http://www.brainsciencefoundation.org/matriarch/MultiPiecePage.asp_Q_PageID_E_274_A_PageName_E_BSFPledge08 918F595E-6564-4BF1-9D6A-CD2AA8480CAF 12 May 2009 00:00:00 -0500 New NF2 clinical trial (phase 0): Concentration and Activity of Lapatinib in Vestibular Schwannomas. ClinicalTrials.gov Identifier: NCT00863122. http://clinicaltrials.gov/ct2/show/NCT00863122?term=nf2&rank=2 785B7D02-FFB6-47DE-80E5-D28D68529C83 8 May 2009 00:00:00 -0500 Summary of the inaugural 2009 NF Forum in Washington DC, USA. Hosted by Children's Tumor Foundation (CTF). Mentions new NF2 clinical trials, and more. http://www.ctf.org/About-the-Foundation/nf-forum.html 0743EF36-6312-4695-95B6-DE42DC4F7E8E 6 May 2009 00:00:00 -0500 Advocure NF2, Inc. is now a 501(c)(3) tax exempt public charity! http://www.advocurenf2.org/determination_letter.pdf FF6E224C-BFB1-4D3E-BC1B-D084685BAB83 5 May 2009 00:00:00 -0500 ENDLESS OBSTACLES: Redmond endurance athlete battles rare genetic disorder. By TIM WATANABE, Redmond Reporter Sports Reporter http://www.pnwlocalnews.com/east_king/red/lifestyle/44183627.html 2BECE271-9438-4E53-9647-9860CAF3EDC2 1 May 2009 00:00:00 -0500 Recent Publications on Neurofibromatosis 2: as seen on BioPortfolio.com. http://www.bioportfolio.com/indepth/Neurofibromatosis_2.html CBA9C098-0FB0-434E-9A09-01BC6C8F881E 11 Apr 2009 00:00:00 -0500 Could New Stem Cell Discovery Benefit NF2 Patients? http://www.ctf.org/For-Scientists/could-new-stem-cell-discovery-benefit-nf2-patients.html E5C7E6A9-778C-4B20-BF68-4D73959BBDC9 7 Apr 2009 00:00:00 -0500 Second issue of Advocure's quarterly newsletter, FLUTTERBY, Spring 2009. Contains a partial listing of relevant clinical trials, studies and symposiums involving NF2. http://www.advocurenf2.org/newsletter/FLUTTERBY_09spring.pdf D9DD9D15-FA4B-4822-A11A-E5F85554BCFB 1 Apr 2009 00:00:00 -0500 New upcoming clinical trial (phase 0) for VS: Concentration and Activity of Lapatinib in Vestibular Schwannomas. ClinicalTrials.gov Identifier: NCT00863122 http://clinicaltrials.gov/ct2/show/NCT00863122?term=nf2&rank=2 401CC607-352C-4B61-BF88-F7C7EA060AF9 1 Apr 2009 00:00:00 -0500 Audiologic and radiographic response of NF2-related vestibular schwannoma to erlotinib therapy [Tarceva]. Scott R Plotkin et al. http://www.nature.com/nrclinonc/journal/v5/n8/full/ncponc1157.html 5E4B6CFF-79B5-4CC3-99C3-192E81CCB498 1 Apr 2009 00:00:00 -0500 The full report of the 2008 NF Conference, New Genes, New Drugs … and NF Clinical Trials, is ready. For NF2; it includes highlights on Avastin, Lapatinib, OSU03012, NXD3000, and radiotherapy. https://www.ctf.org/pdf/nfconference/2008%20NF%20Conference%20Summary.doc A765E971-CF91-4A61-BF84-2BE4E363E6D8 4 Mar 2009 00:00:00 -0500 A primary human in vitro model to test and translate new therapies for Neurofibromatosis type 2 tumours into clinical trials. http://www.scienceroom.org/neurofibromatosis 1E65DAB6-CA26-45D9-A789-CB382262ADBC 24 Feb 2009 00:00:00 -0500 "Update on long-term results with auditory brainstem implants in NF2 patients" http://www3.interscience.wiley.com/journal/122210867/abstract?CRETRY=1&SRETRY=0 C7CB114A-B347-4E82-B6BB-90AD2984BD57 20 Feb 2009 00:00:00 -0500 If you (or a close family member), have had VS/AN intervention as a YOUNG TEEN, please take a moment to complete this brief "NF2 early intervention questionnaire", opened from February 2, 2009 to March 2, 2009. Afterwards, an anonymous summary of results will be posted. The questionnaire is by Advocure NF2, Inc. Thank you for your time and input! http://www.surveymonkey.com/s.aspx?sm=4sHXqDR2CVjD4J1cDNthVA_3d_3d 372EC42D-C6B8-4480-89B1-060CF3C34477 2 Feb 2009 00:00:00 -0500 Findings from T. Yokoyama and co-researchers advance knowledge in gene therapy ... functional and physical interaction with Merlin encoded by the neurofibromatosis type 2 (NF2) tumor suppressor gene, which is frequently mutated in MPMs. YAP1-RNA interference ... http://www.newsrx.com/article.php?articleID=1386363 2721C7A7-D58F-42C0-9CF7-D38A7ECAACE1 19 Jan 2009 00:00:00 -0500 An open dialogue with Dr. D E Brackmann (of HEI of LA) about the potential role of cochear implants with NF2 vestibular schwannomas. http://www.advocurenf2.org/03_cochlear_implant.html B4A6C6BF-3810-4EB5-8601-615883E5BF97 19 Jan 2009 00:00:00 -0500 Clinical Trials, BrainPort Balance - Wicab is sponsoring clinical studies at various medical centers in the U.S. and Europe to evaluate the effectiveness of the BrainPort balance device for improving balance in people with balance difficulties. 1/ Safety and Efficacy Study of BrainPort® Balance Device in Peripheral Vestibular Dysfunction, ClinicalTrials.gov Identifier: NCT00768378. 2/ Use of the BrainPort® Balance Device to Improve Balance in Adults With Balance Deficits Due to Stroke, ClinicalTrials.gov Identifier: NCT00567944 http://wicab.us/research/clinical-studies.php 834C383B-CD12-4922-8F32-81D68C191689 1 Jan 2009 00:00:00 -0500