Office of Rare Diseases Research Update. Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare Diseases Research

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1 Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare Diseases Research

2 > 6,000 rare diseases Many undiagnosed < 500 have any treatment 2

3 How can we all make a difference for rare diseases? Smart use of data Creating a research continuum Partnering for success Engaging the next generation of researchers 3

4 How can we accelerate the path from discovery to health benefit? Clinic Research Integrating care and research Patient-reported outcomes Integrating data from multiple sources Harmonization Collaboration 4

5 How can we make sure our data count? Registry Biomarkers Natural History Study Photo credit: Michael and Rachel Harris For rare diseases: Continuity of data Data standards Keep end-user in mind Trials Post-approval 5

6 Partnering for Success Academics Patient Groups Industry Governmental Organizations Examples include: ERARE and NCATS ECRIN Japan 6

7 NCATS Genetic and Rare Diseases Information Center (GARD) Online resource with: Up-to-date, reliable and easy-to-understand information on rare or genetic diseases In English or Spanish For people with rare or genetic diseases, their families, friends, care providers and wider communities Contact information for telephone and queries

8 NIH/NCATS Rare Diseases Registry Program Common Data Elements (CDEs) for collecting data Informed consent templates Privacy Protecting Record Linkage (PPRL) or Global Unique Identifier (GUID) Map patient data to GRDR CDEs & national standards Information and tools 10

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10 ORDR/NCATS (NCI, NHLBI, NIAID, NIAMS, NICHD, NIDCR, NIDDK, NIMH, NINDS, ODS) Developmental Synaptopathies Associated with TSC, PTEN And SHANK3 Mutations The Frontotemporal Lobar Degeneration Clinical Research Consortium Inherited Neuropathies Consortium Dystonia Coalition Coalition of Patient Advocacy Groups (C) Porphyria Rare Disease Clinical Research Consortium North America Mitochondrial Diseases Consortium Primary Immune Deficiency Treatment Consortium Brittle Bone Disorders Consortium Chronic Graft Versus Host Disease Nephrotic Syndrome Study Network Rare Lung Diseases Consortium Lysosomal Disease Network Rare Kidney Stone Consortium Vasculitis Clinical Research Consortium Clinical Research in ALS & Related Disorders for Therapeutic Development Autonomic Disorders Consortium Collaborative Clinical Research Centralized Data Coordination and Technology Development Public Resources and Education Training Sterol and Isoprenoid Diseases Consortium The Data Management and Coordinating Center Urea Cycle Disorders Consortium Brain Vascular Malformation Consortium Genetic Disorders of Mucociliary Clearance Consortium of Eosinophilic Gastrointestinal Disease Researchers Rett, MECP2 Duplications and Rett-Related Disorders Consortium

11 About the RDCRN Program Collectively, the RDCRN is studying 200 rare diseases in natural history and clinical trials at 418 active clinical sites located in the US and in 24 countries. There are more than 90 active protocols. 41,519 patients have enrolled in clinical studies. There have been 265 trainees. There are 3,545 collaborative consortium members. There are 144 s as research partners, collectively formed a Coalition (RDCRN-C). 11

12 NCATS TOOLKIT PROJECT

13 Rare Diseases Toolkit Why? Patient involvement and community engagement are vital throughout the translational research process A wealth of educational and informational tools have already been developed by and for the rare disease community Academia Disease foundations Government agencies Industry But existing resources are dispersed and difficult to discover, especially for newcomers 13

14 What will the Toolkit project do for the rare diseases community? Collaboratively create a well-designed source for online educational and informational research resources and tools. Provide a single online portal with resources that patient groups can readily access along with context. Improve coordination rather than re-create existing resources. Facilitate opportunities to bring groups together, identify gaps in online resources, and disseminate information to patient groups. Promote continuity across the lifecycle of the drug development process. Pre-clinical Trial readiness Trials Post-approval 14

15 How we plan to develop the Toolkit Planning group driven by patient group representatives Inclusive*, transparent, collaborative Focus on tools that are useful for research, easily accessible and practical Ascertain needs of patient groups Survey landscape of available tools Develop & Demonstrate Sept. 20, 2016 workshop Disseminate starting summer 2017, via larger meeting(s) & webinars * Tools are suggested for inclusion by the patient community. While we cannot capture everything, the initiative will be evolving and we invite comment and feedback. Identify gaps & opportunities Organize tools based on exemplary use cases Educate & inform rare disease community Develop programs that assist with use-case based strategies for patient groups at different stages 15

16 FDA Approvals for Rare Diseases Recently approved new molecular entities: 2015 n = n = 22 45% had a rare disease indication RD In addition to rare cancer indications, there are several examples of first-ever treatments for rare genetic diseases, e.g., LAL deficiency, hypophosphatasia, primary bile acid synthesis disorders, CF most common mutation (F508del), hereditary orotic aciduria, SMA, DMD. Recently approved new Biological License Application (BLA) approvals: 2015 and 2016: n = 13 each. Examples include blood clotting disorders, primary humoral immunodeficiency, snake bite, and anthrax. 16

17 Take-home Messages Smart use of data Creating a research continuum Partnering for success Engaging the next generation of researchers 17

18 ORDR staff Dr. Petra Kaufmann, Director, Office of Rare Diseases Research and Division of Clinical Innovation Dr. Anne Pariser Deputy Director of the Office of Rare Diseases Research Dr. David Eckstein, Senior Health Science Administrator Dr. Rashmi Gopal-Srivastava, Director of Extramural Research Program Mr. Chris Griffin, Program Analyst Ms. Henrietta Hyatt-Knorr, Senior Program and Policy Analyst Ms. Susan Orr, Program Assistant 18

19 Connect With NCATS: ncats.nih.gov/connect Website: ncats.nih.gov Facebook: facebook.com/ncats.nih.gov Twitter: twitter.com/ncats_nih_gov YouTube: youtube.com/user/ncatsmedia E-Newsletter: Announce Listserv:

20 Thank you & Time for Questions