Office of Rare Disease Research
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John H. Ferguson MD, Medical Consultant, ORDR/NCATS/NIH RARE DISEASES RESEARCH AT NIH NCATS, TRND AND ATAXIA RESEARCH PRESENTER DISCLOSURES No relationships to disclose or list AGENDA Rare Diseases Office of Rare Diseases Research (ORDR) National Center for Advancing Translational Sciences – NCATS Therapeutics for Rare and Neglegted Diseases –TRND Ataxia research with ORDR, NCATS and TRND RARE DISEASES 18 - 25million people in the US are affected - Exact Prevalences Unknown Estimated 6%-8% of Population Prevalence definition: < 200,000 people in the USA > 7000 Genetic and Acquired Rare Diseases Need Collaborative Efforts of the Rare Diseases Community Academic Researchers Federal Research and Regulatory Programs > 1100 Patient Advocacy Groups/Philanthropic Foundations Industry Congressional Rare Diseases Caucus Established RARE DISEASES CLINICAL RESEARCH NETWORK 19 Consortia supported by ORDR, NINDS, NIAMS, NICHD, NHLBI, NIDDK, NIAID, NIDCR and NCI Required 3 diseases longitudinal studies of patients, Encouraged : Phase I, II and III trials; Training of Investigators in clinical research of rare diseases; Pilot studies/demonstration projects Collaboration with Patient Advocacy Groups Data Management Coordinating Center DMCC > 192 Institutions World-wide, 42 International Sites, > 200 Diseases 9393 patients enrolled in 68 studies Coalition of Patient Advocacy Groups (CPAG) The Data Management and Coordinating Center • Collaborative Clinical Research • Public Resources and Education • Centralized Data Coordination and Technology Development Chronic Graft Versus Host Disease Consortium • Training CREATION OF THE NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES (NCATS) To catalyze the development of innovative methods and technologies that will enhance the development, testing, and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions DEVELOPMENT OF NEW THERAPEUTICS Stage 1 Stage 2 Drug Discovery Pre-clinical Stage 4 Clinic FDA Review Access Phase iv Stage 3 Clinical Trials Phase I Phase II Phase III IND Submitted 6.5 years NDA Submitted 6 years 1.5 years NCATS RESEARCH PROGRAMS Components of Molecular Libraries Program Therapeutics for Rare and Neglected Diseases Office of Rare Diseases Research Bridging Interventional Development Gaps (BrIDGs) Clinical and Translational Science Awards (CTSA) FDA-NIH Regulatory Science Cures Acceleration Network NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCINECES NCATS Executive Office Erin Shannon (Acting) Council CAN Board Office of the Director Tom Insel (Acting Director) Kathy Hudson (Acting Deputy Director) Office of Grants Management & Review Jane Steinberg (Acting) Division of Pre-Clinical Innovation Chris Austin STRUCTURE Office of Rare Diseases Research Steve Groft Office of Policy, Communications, & Strategic Alliances Kathy Hudson (Acting) Division of Clinical Innovation Josie Briggs (Acting) NCATS UNIFIES THREE PROGRAM AREAS Clinical and Translational Science Activities CTSAs Clinical Translational Science Awards Rare Diseases Research and Therapeutics Office of Rare Diseases Research ORDR Therapeutics for Rare and Neglected Diseases (TRND) Re-engineering Translational Sciences NIH Chemical Genomics Center/Molecular Libraries program Bridging Interventional Development Gaps BrIDGs Toxicology in the 21st Century TRND PARTNERS Academia Government Biopharmaceuticals Patient Advocacy Groups TRND Successful applicants don’t receive grants Form joint project teams with TRND Receive in kind support from TRND scientists, laboratory and contract resources Goal is advancing compounds to FDA IND clinical trials in humans TRND PILOT PROJECTS, PROOF OF CONCEPT Niemann- Pick C Hereditary Inclusion Body Myopathy Sickle cell anemia - IND received Chronic Lymphocytic Leukemia IND received Shistosomiasis TRND – 4 DRUG DEVELOPMENT PROJECTS APPROVED Duchenne Muscular Dystrophy Fragile X Cryptococcal Meningitis Core binding factor leukemia LATEST TRND PROJECTS APPROVED An inhibitor compound for Rx of fibrodysplasia ossificans Applicant is academic MD Compound shows efficacy in mouse model Novel Rx for creatine transporter deficiency Applicant is a pharmaceutical Co. Mouse model show incr. brain metabolism and cognative function Compount for Rx of neonatal herpes simplex Applicant is academic pediatrician Compound can penetrate CNS, NIAID studied LATEST TRND PROJECTS APPROVED Deuterimum modified compound for shistosomiasis Applicant is pharmaceutical co. Enables lower and less frequent dosing Drug candidate for Duchenne MD Applicant is pharmaceutical co. Drug is for a specific subgroup mutation Rx for autoimmune pulmonary alveolar proteinosis Applicant is academic MD Developed as an inhaled Rx TRND WILL FOLLOW MILESTONES AND TERMINATE PROJECTS – FOR INSTANCE If no effect in animal models Too much toxicity in preclinical testing Poor bioavailability – can’t be absorbed OTHER NCATS PROGRAMS Cures Acceleration Network (CAN) Address challenges that impede translational research Rescuing and Repurposing Drugs e.g. lithium Designing a Tissue Chip for Drug Screening With FDA and the Defense Advanced Research Projects Agency (DARPA) “organ on a chip” Identifying and Validating Drug Targets NCATS, ORDR AND ATAXIA RESEARCH Many potential drug targets for new compounds heard at AIM 2012 High throughput screening at NCATS of thousands of molecules already being used by ataxia researchers Rescuing and repurposing drugs is NCATS program and many examples given at AIM 2012 Programs at ORDR, NeuroNext, NCATS and TRND should offer HUGE opportunities for ataxia research ncats.nih.gov NIH OFFICE OF RARE DISEASES RESEARCH - STAFF Steve Groft PharmD Ms. Mary Demory Dr. David Eckstein Ms. Marita Eddy (Angel Flight) Dr. John Ferguson Dr. Rashmi Gopal-Srivastava Mr. Christopher Griffin Ms. Henrietta Hyatt-Knorr Dr. Lata Nerurkar Ms. Susan Orr Lowe Ms. Geraldine Pollen Dr. Yaffa Rubinstein Dr. William Gahl (Clinical Director, NHGRI) Dr. P.J . Brooks (NIAAA)
