Public Presentation to the FDA on Rare Disease Advocacy
Rare disease advocate Chris Hempel shares her journey with her twins diagnosed with Niemann Pick Type C, highlighting challenges in finding treatments today and her efforts in personalized medicine. Teaming up with other families, she founded SOAR-NPC to advance research and seek FDA-approved drugs for immediate treatment.
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Presentation Transcript
Public Presentation to the FDA on Rare Disease June 29-30, 2010 Presentation To: The Jackson Laboratory December 4, 2009 Chris Hempel Addi & Cassi Fund One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Rare Disease Advocist Chris Hempel from Reno, Nevada In 2004, blessed with identical twins, Addison and Cassidy, now six Before becoming a Mom, career in hi-tech public relations, no scientific background In 2005, medical odyssey with twins begins In 2007, twins diagnosed with Niemann Pick Type C, ultra rare and fatal cholesterol condition Self described rare disease advocist : advocate + activist One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Finding Treatments Today No hope is a common theme for millions of people with rare diseases In our disease, one experimental drug for NPC - $160,000 a year for twins Lots of basic science in NPC, but almost no therapy pipeline No biomarkers in our disease Existing Foundations goals not aligned with our goals to treat our children TODAY One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease SOAR-NPC Teamed up with 5 families, pool resources Created Virtual BioTech named SOAR-NPC (Support Of Accelerated Research) for Niemann Pick Type C disease Hired PhD to help sift through medical data Fund researchers willing to collaborate across labs and engage with families Short term: Looking for FDA approved drugs off- label or OTC supplements to treat children now Longer term: new drug development One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease IT S PERSONAL One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Personalized Medicine Approach Pace of research too slow to help our twins Drugs and therapies need to be based on individual genomic profile, not averages Decided to create personalized medicine approach to finding treatments and making clinical decisions for our twins Inserted ourselves into the scientific process despite resistance and lack of knowledge One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Cyclodextrin Our Miracle? Days after NPC diagnosis, promising sugar compound cyclodextrin came to our attention Cyclodextrin used in food industry Cyclodextrin extracts cholesterol from cell cultures Limited animal data, but promising early results on neurological status in animals Told Cyclodextrin was many years from ever going into children why not work in parallel? Journey into Valley of Death begins One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Cyclodextrin As Case Study Cyclodextrin is perfect rare disease drug case study for FDA and NIH Personal experience shows the exact challenges in rare disease drug development system today No ability to patent compound No Pharma or BioTech interest other than pro bono Even if patentable, virtually impossible to move forward due to costs, risks, lack of patient population (500 people worldwide) One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Cyclodextrin Challenge How do we conduct N of 2 human study/trial without Pharma, BioTech or NIH support? How do we move forward when some of our own NPC researchers don t want to share data? Cancer doctor decides to help us; others doctors not willing to take career risks Write intravenous human protocol from scratch, no experience with FDA or drug dev. process Full time job, personal funding required Insurance company supports us, without insurance we would be stalled One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease FDA Experience FDA approved our intravenous INDs If I listened to what people told me about the FDA, I would not be standing here today Everyone seems scared to death of the FDA FDA has been helpful, responsive to our requests but process is cumbersome Rules and regulations burdensome when running a sprint, not a marathon Recently submitted new INDs to deliver cyclodextrin directly into the CNS of twins One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease REALITY CHECK One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Stop The Spin Stop the Spin the system has failed millions & millions of people, particularly children Drugs being created by Pharma are drugs people simply can t afford Research system is publish or perish and tenure driven, not focused on health or drug development All constituents (FDA, NIH, Pharma/Bio, Insurance, Government, Researchers, Individual RD Foundations, Advocates) must admit system is broken Need change today too much talking, not enough action. Where is sense of urgency? One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Serious Bench to Bedside Gaps Moving compounds from lab to humans is a major problem facing all rare diseases Too much reliance on Pharma or BioTechs to take on entire development role Investment not happening because of lack of financial incentives for rare diseases; too much risk with little upside If no Pharma or BioTech investment, reliance shifts to NIH to conduct human clinical trials NIH is focused on research, not accelerated drug development NIH does not know how to run very small clinical trials! Research labs with promising rare disease compounds lack understanding of drug development and FDA process; no money Until TRND, lack of government dollars. TRND needs support! One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease SOLUTIONS One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Novel Financial Incentives (ODACs) Orphan Drug Act of 1983 incentives are outdated for today s Pharma, Biotech and Venture needs Create similar priority review voucher system that was passed for infectious diseases System could be modeled after clean energy credits Orphan Drug Act Credits ( ODACs ) Create an exchange market for ODACs Basic idea is to let blockbuster drugs fund orphan drugs through patent extensions and priority reviews One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Change Research Incentives Public funding should not go to researchers working in silos NIH grants need refocusing; need legislation NIH reward collaborative and cross disease research efforts with large grants Reward SOAR and other new innovative rare disease models Government CRO to help with human testing? One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Invest In Education & Genetic Testing Rare Disease Community does not really exist Rare diseases silo focused as well, no combined goals; thousands of fractured groups Need Francis Collins help to educate! Serious lack of statistics for such a huge public health concern Urgent economic assessment needed what are rare diseases costing the US taxpayers? Genetics investment critical genetic testing before people have children One Mom s Journey Into The Valley of Death
Public Presentation to the FDA on Rare Disease Bottom Line Without new novel financial incentives, changes in research incentives and serious government intervention and commitment, rare disease drug development is not going to change One Mom s Journey Into The Valley of Death
