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A free lecture course  "The Science of Small Clinical Trials"  is now open for registration. The survey course covers methods to design and analyze clinical trials using small numbers of participants and is provided by The National Institutes of Health Office of Rare Diseases Research in conjunction with the Food and Drug Administration Office of Orphan Products Development.  This topic of how to design conduct and interpret smal lclinical trials is highly relevant to neurofibromatosis where small clinical trials - such as those funded by the Children's Tumor Foundation Clinical Trials Award - are likely to play an important part in advancing neurofibromatosis drug therapies.

The course comprises 7 x 2-hour lectures in February and March, and can be attended in person (NIH campus in Bethesda, MD) or online.  Remote  attendees will be able to submit questions to the speaker.  An optional self-administered open-book on-line examination concludes the course to qualify for a certificate from FDA's Office of Orphan Products Development. More information and registration:   http://small-trials.keenminds.org/

One of the few remaining ARRA opportunities at NIH is the RC4 program.  Areas of interest in this initiative are “Genomics/High Throughput Technologies” and “Translating Basic Science into New and Better Treatments”.  This initiative was just released on Dec 28^th; LOI deadline is 2/15 and submission deadline is 3/15.  Only projects with budgets greater than $500,000 total costs per year (for up to 3 years) will be considered. Visit:   http://grants.nih.gov/grants/guide/rfa-files/RFA-OD-10-005.html. Remember NIH and NINDS support molecular library screening (R21) and therapeutic development (R21 and U01) including for neurofibromatosis research. For inquiries contact Dr. Jane Fountain at fountai@ninds.nih.gov.

Ed. note: The below was written by Dr. Kim Hunter-Schaedle.

This year has seen some amazing progress in neurofibromatosis research. The path to finding treatments for NF1, NF2 and schwannomatosis is challenging, but researchers continue to unravel the biology and apply this information to identifying candidate drug interventions. Here are five areas worth highlighting from the year. We blogged on most of these and you can find more information by searching our archive. 

1. Neurofibromatosis Clinical Trials Pipeline Grows. July saw the reporting of a small but groundbreaking NF2 clinical trial of bevacizumab (Avastin) at Massachusetts General Hospital yielding preliminary evidence that the drug could shrink vestibular tumors and lead to some regained hearing. This study published in top-notch New England Journal of Medicine and made the national media. The Foundation funded our first clinical trials, Phase 0/lapatinib in NF2 and Phase I/Sorafenib in NF1 plexiform tumors and published consensus recommendations for conducting NF2 clinical trials. Other neurofibromatosis trials commencing this year included Phase II/PTC299 in NF2; and light-based therapy for NF1 plexiform tumors.
2. Basic Science Knowledge in Neurofibromatosis Advances. New research on cancer signaling this year, including several projects funded by the Children’s Tumor Foundation, opened up understanding of what makes benign cells become malignant, why and how cells metastasize, and how molecular targets ‘communicate’. We have the first mouse models of schwannomatosis and NF1 dermal neurofibromas, while other NF mouse models are now improved to better replicate the human condition as closely as possible.  This information and these tools are vital resources for developing targeted drug treatments for neurofibromatosis.
   
3. Getting the Right Diagnosis. Legius Syndrome (NF1 like, but caused by SPRED1 mutations and with milder clinical impact) moved from lab to clinic as a bona fide condition that can be diagnosed. Explorations into the genetic cause of schwannomatosis evolved and we now know this definitely goes beyond the first candidate gene identified, INI1/SMARCB1; this area will benefit from the information collected from patients in the US and Europe through the Foundation’s new Schwannomatosis Database project. Also this year the Foundation published consensus recommendations for management of NF1-related bone dysplasia. As the clinical spectrum of neurofibromatosis and our body of information grows the Foundation shares this broadly across our NF Clinic Network, now 40+ clinics strong. 
4. Fuelling the Neurofibromatosis Drug Pipeline. The Foundation’s Drug Discovery Initiative funded nine DDI Awards in 2009 including our first schwannomatosis award - to screen pain drugs. DDI projects span NF1 and NF2 tumors, learning disabilities and bone dysplasia. Drugs tested range from commercially available drugs, to industry pipeline drugs, to new chemical entities. Perhaps most unique in 2009 we funded induced pluripotent stem cell (iPS) as a therapeutic approach to treating NF1 plexiform tumors.  To date we have invested $735,000 in 31 Awards - and already, prior awardees have collectively secured $3.7M in follow on funding and spearheaded 14 industry collaborations!  The Foundation’s NF Preclinical Consortium also expanded its industry collaborations to include Novartis, Genentech and Avila Therapeutics. 
5. Our World Evolves. We are in this together like never before.  Biotech and pharma are merging, streamlining and even collaborating on clinical trials that combine their drugs.  Operations at the Food and Drug Administration are being closely examined.  Even the inner workings of the NIH, awarded an extra $10B in stimulus funding this year, are under the microscope, and have an enthusiastic new director at the helm in NF1 gene pioneer Dr. Francis Collins. Foundations like ours are gaining a bigger voice by working together such as at the ‘Partnering for Cures’ meeting in December. And don’t forget the changing healthcare system. We hope this time of change will lead to easier access drugs and accelerated clinical trials that benefit those living with neurofibromatosis and many other conditions.