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On March 15, 2012, Stanford Hospital announced the launch of a new program, led by Dr. Steven Chang, to treat rare tumor-multiplying diseases.

Stanford's program includes a team of 12 specialists in several fields: neurosurgery, epilepsy, neuro-ophthalmology, neuro-oncology, neuro-otology, neuro-interventional radiology, urology, and general surgery. 

"The goal," Chang said, "is to give cutting-edge care for conditions like Knodel's, neurofibromatosis 2 (NF2) and others including another form of neurofibromatosis, schwannomatosis tuberous sclerosis, von Hippel-Lindau disease, Sturge Weber syndrome and hemorrhagic telangiectasia."

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Schwannomatosis is the rarest form of neurofibromatosis (NF), affecting an estimated 1:40,000 people, and it causes tumors to grow on peripheral nerves as well as severe and unmanageable pain.  It has also been the most mysterious form of NF, both in terms of accurate clinical diagnosis and in terms of understanding its biology and genetics.

In 2005, the Children's Tumor Foundation spearheaded the publication of the first diagnostic criteria for schwannomatosis.  In those initial critieria, it was stated that if a person had one or two vestibular schwannomas  (tumors on the 8th cranial nerve in the brain) then this would exclude a diagnosis of schwannomatosis and indicate a diagnosis of NF2.  In 2007,  the first candidate gene for schwannomatosis - INI1/SmarcB1/Snf5 - was identified, and though this gene does not appear to be universally involved in all cases of schwannomatosis, it has aided in the diagnosis of the disorder and in researching its molecular basis. 

Now a team led by Dr. D. Gareth Evans (University of Manchester) reports in the American Journal of Medical Genetics on two people each presenting with a unilateral (single) vestibular tumor as well as peripheral nerve tumors but for whom a diagnosis of NF2 has been eliminated through clinical or genetic evaluation.  This is an important finding, and suggests that there may be other cases elsewhere that have previously been diagnosed as NF2 that are in fact schwannomatosis.

The Children's Tumor Foundation has made significant contributions to advancing schwannomatosis research through grant funding, including establishing the first Schwannomatosis International Database, as well as organizing a series of International Schwannomatosis Workshops to spur collaboration.  In December, we'll be announcing some newly funded schwannomatosis research projects and unveiling future plans for our continued commitment to advancing this research area.

                As neurofibromatosis clinical trials increase in number, the clinicians leading them are keen to design the trials to be as effective and meaningful as possible. A key part of this effort is developing the right trial endpoints - measures and metrics that can be used to determine if a drug or intervention is effective or not.  To tackle this area, a team of neurofibromatosis clinicians and researchers has formed  a working group called Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS). Spearheaded by Dr. Scott Plotkin (MGH) and Dr. Brigitte Widemann (NCI) and first convened in June at the Children’s Tumor Foundation 2011 NF Conference, around 30 leading NF clinicans and researchers participating in the REiNS met in Boston to continue their planning and discussions.

                Past endpoints for neurofibromatosis clinical trials have included changes in maximum tumor dimension on MRI scans or changes in cognitive function on neuropsychological assessment (for learning disabilities).  Looking ahead, more advanced endpoints under discussion (and already being piloted in some cases) include volumetric tumor analysis and whole body MRIs; and the use of biomarkers – biological indicators in the blood or other body fluids to determine if a drug is working. REiNS members have organized into groups to focus on different measures and plan to meet every few months to continue advancing this project.

                The Children’s Tumor Foundation is delighted to be investing in endpoint development through our Clinical Research Awards program.  Currently our funded projects include developing a computerized test for more accurate assessment of learning disabilities trials; identifying a blood biomarker of NF1 status; and developing measures of response for optic pathway glioma trials. We will be announcing more funded awards in early 2012. 

                Clinicians or researchers interested in participating in REiNS can contact Vanessa Merker at MGH: vmerker@partners.org. 

Do you have a basic discovery that you think you can  translate to the clinic for the benefit of patients? The National Institutes of Health (NIH) Clinical Center has announced availability of funds for the 2012 Bench to Bedside Awards Program to support exactly this type of project. This unique program offers Awards of $135,000 over 2 years and supports clinical research - including in rare diseases such as neurofibromatosis. As part of its mission the program  faciliates access for researchers outside of the NIH to the institutes wealth of clinical research resources.  

A Letter of Intent is due on September 28, 2011.  More information about the program and the application process can be found at http://www.cc.nih.gov/ccc/btb/ or submit any questions by email to BenchtoBedside@mail.nih.gov.

Schwannomatosis is the least well understood form of neurofibromatosis and also the rarest, affecting an estimated 1:40,000 persons. It causes tumors to grow on peripheral nerves throughout the body and severe, untreatable pain.  In 2007 the first candidate schwannomatosis gene was reported but there is much to learn and understand on the path to developing treatments. Since that time CTF has been at the forefront of leading schwannomatosis progress investing over $600,000 in projects including  genetics, animal model development, preclinical drug testing and establishing a Schwannomatosis International Database.  As well as funding research, CTF has accelerated progress and collaboration in this area by hosting a series of expert consensus meetings, the most recent in June 2011 from which a state-of-the-field report is being developed for publication.

As an outcome of the June consensus meeting, CTF announces a request for Applications for Schwannomatosis Awards up to $75,000. Funding may be requested for ANY research in any area of relevance to advancing schwannomatosis; areas of emaphasis are Genetics, Cell Biology & Translational Research; and Clinical Research. Applications must be received by Monday October 3^rd, 2011. For more information visit http://www.ctf.org/For-Scientists/schwannomatosis-awards.html