Collaborative Research and Development Activities Stephen C. Groft, Pharm.D. Office of Rare Diseases National Institutes o...
A View of the NIH  OD Deputy and Associate Directors Administrative Offices Advisory Committee to the Director National In...
Rare Diseases Act of 2002 (Rare Disease Prevalence < 200,000 in USA) <ul><li>Public Law 107-280  (November 6, 2002) </li><...
Office of Rare Diseases (ORD) <ul><li>Intramural Research Program  </li></ul><ul><ul><li>Bench to Bedside Program – IRP/ER...
Office of Rare Diseases (ORD) <ul><li>Extramural Research Program </li></ul><ul><ul><li>Scientific Conferences  </li></ul>...
Office of Rare Diseases <ul><li>Trans-NIH Working Group on Rare Diseases Research </li></ul><ul><li>Genetic Testing – CETT...
Office of Rare Diseases (ORD) <ul><li>Information Development and Dissemination  and  Education  Activities </li></ul><ul>...
Rare Diseases Clinical Research Network (RDCRN) <ul><li>Rare Diseases Clinical Research Centers  </li></ul><ul><ul><li>$1....
Research Network  Consortia (2006)   http://rarediseasesnetwork.epi.usf.edu/ <ul><li>Angelman, Rett, Prader-Willi Syndrome...
<ul><li>Collaborative Clinical Research </li></ul><ul><li>Centralized Data Coordination and Technology Development </li></...
Purposes of Cooperative Rare Diseases Clinical Research Network <ul><li>Facilitate Clinical Research in Rare Diseases  </l...
Organization of the RDCRN NIH, ORD, NCRR, NIAMS, NICHD, NHLBI, NIDDK, NINDS  Data and Technology Coordinating Center PRC M...
Data and Technology Coordinating Center Dr. Jeffrey Krischer <ul><ul><li>Collaboration in design of clinical protocols, da...
Current Accruals - Participants Registered <ul><li>Angelman, Rett, & Prader-Willi Syndromes Consortium – 273 </li></ul><ul...
Inventory and Evaluation of Clinical Research Networks (IECRN) Projects   <ul><li>https://www.clinicalresearchnetworks.org...
Roadmap for Medical Research, the Office of Portfolio Analysis and Strategic Initiatives (OPASI) <ul><li>Identify ideas fo...
Criteria for Roadmap Initiatives   Goal  is to accelerate the discovery and translation of scientific knowledge into publi...
Coordinated Efforts for Successful Orphan Product Development/Rare Diseases Research <ul><li>Industry (Domestic and Intern...
Promoting Quality Genetic Testing <ul><li>Formed -  National Laboratory Network for Rare Disease Genetic Testing (NLN) htt...
Challenges and Strategies- Goal: Quicker and Less Expensive Development of Orphan Products <ul><li>Provide Global  Access ...
Challenges and Strategies- Goal: To Obtain the Correct Diagnosis and to Improve Dissemination of Information <ul><li>Expan...
Challenges and Strategies – Goal: To Meet Patient and Family Needs <ul><li>Identify and Expand Worldwide Partnerships and ...
ORD Website http://rarediseases.info.nih.gov/ <ul><li>Rare Diseases Information – Pub Med </li></ul><ul><li>Research and C...
The Genetic and Rare Diseases Information Center (NHGRI/ORD) <ul><li>>14,500 Inquiries (2002 – 2006)  </li></ul><ul><li>> ...
Office of Rare Diseases National Institutes of Health <ul><li>6100 Executive Boulevard  </li></ul><ul><li>Room 3B-01, MSC ...
Office of Rare Diseases - Staff <ul><li>Ms. Mary Demory </li></ul><ul><li>Ms. Marita Eddy (Angel Flight) </li></ul><ul><li...
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Collaborative Research and Development Activities

  1. 1. Collaborative Research and Development Activities Stephen C. Groft, Pharm.D. Office of Rare Diseases National Institutes of Health Department of Health and Human Services _________________________ Genetic Alliance Annual Meeting July 28, 2006
  2. 2. A View of the NIH OD Deputy and Associate Directors Administrative Offices Advisory Committee to the Director National Institute of Mental Health National Institute of Neurological Disorders and Stroke National Library of Medicine National Cancer Institute National Institute on Aging National Heart Lung and Blood Institute National Eye Institute Clinical Center Center for Scientific Review Center for Information Technology National Institute of Environmental Health Sciences National Institute of General Medical Sciences National Institute of Deafness and Other Communication Disorders National Institute of Dental and Craniofacial Research John E. Fogarty Center for Advanced Study in the Health Sciences National Center for Complementary and Alternative Medicine National Center for Minority Health and Health Disparities National Center for Research Resources National Institute of Nursing Research National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institute of Allergy and Infectious Disease National Institute on Alcohol Abuse and Alcoholism National Institute on Drug Abuse National Institute of Biomedical Imaging and Bioengineering National Human Genome Research Institute National Institute of Diabetes and Digestive and Kidney Diseases National Institute of Child Health and Human Development Office of Research on Women’s Health Office of AIDS Research, Office of Dietary Supplements, Office of Behavioral and Social Sciences Research, Office of Disease Prevention, Office of Rare Diseases ,
  3. 3. Rare Diseases Act of 2002 (Rare Disease Prevalence < 200,000 in USA) <ul><li>Public Law 107-280 (November 6, 2002) </li></ul><ul><li>Recommend Research and Public Education Agendas at NIH </li></ul><ul><li>Promote Coordination and Collaboration of Rare Diseases Activities </li></ul><ul><li>Develop Information Center (NHGRI) </li></ul>
  4. 4. Office of Rare Diseases (ORD) <ul><li>Intramural Research Program </li></ul><ul><ul><li>Bench to Bedside Program – IRP/ERP </li></ul></ul><ul><ul><li>Office of Technology Transfer (Neglected Diseases, Rare Diseases) </li></ul></ul><ul><ul><li>Clinical and Biochemical Genetics Training Program </li></ul></ul><ul><ul><li>Patient Travel – Angel Flight </li></ul></ul>
  5. 5. Office of Rare Diseases (ORD) <ul><li>Extramural Research Program </li></ul><ul><ul><li>Scientific Conferences </li></ul></ul><ul><ul><ul><li>American Chemical Society </li></ul></ul></ul><ul><ul><li>Rare Diseases Clinical Research Network (RDCRN) </li></ul></ul><ul><ul><li>RFA and PA Participation </li></ul></ul><ul><ul><li>Office of Policy Analysis and Strategic Initiatives (OPASI) </li></ul></ul>
  6. 6. Office of Rare Diseases <ul><li>Trans-NIH Working Group on Rare Diseases Research </li></ul><ul><li>Genetic Testing – CETT Program </li></ul><ul><li>Bio-specimen Collection, Storage, and Distribution </li></ul><ul><li>Rare Cancers Emphasis </li></ul><ul><li>Amyloidosis </li></ul><ul><li>Future: Need for Special Emphasis Panel Review (1987, 1998, 2007 ?) </li></ul><ul><li>Future: Need of Patient/Research Registry </li></ul><ul><li>Future: Survey of Prevalence of Rare Diseases in USA </li></ul>
  7. 7. Office of Rare Diseases (ORD) <ul><li>Information Development and Dissemination and Education Activities </li></ul><ul><ul><li>DIRLINE, Clinical Trials.gov, Pub Med, Gene Tests, OMIM </li></ul></ul><ul><ul><li>Seminars for PAG Leadership </li></ul></ul><ul><ul><li>Website </li></ul></ul><ul><ul><li>Information Center (NHGRI) </li></ul></ul><ul><ul><li>National Coalition for Health Professional Education in Genetics (NCHPEG) </li></ul></ul>
  8. 8. Rare Diseases Clinical Research Network (RDCRN) <ul><li>Rare Diseases Clinical Research Centers </li></ul><ul><ul><li>$1.25 Million/Year for 5 Years – 10 Consortia </li></ul></ul><ul><ul><li>Focused on a Subgroup of Diseases </li></ul></ul><ul><ul><li>Consortium of Clinical Investigators, Institutions, Patient Support Groups </li></ul></ul><ul><li>Data and Technology Coordinating Center </li></ul><ul><ul><li>$2 Million/Year for 5 years </li></ul></ul><ul><li>Utilize Resources of the General Clinical Research Centers </li></ul><ul><li>http://rarediseasesnetwork.epi.usf.edu/ </li></ul>
  9. 9. Research Network Consortia (2006) http://rarediseasesnetwork.epi.usf.edu/ <ul><li>Angelman, Rett, Prader-Willi Syndromes – A. Beaudet </li></ul><ul><li>Bone Marrow Failure – J. Maciejewski </li></ul><ul><li>Genetic Diseases of Mucociliary Clearance – M. Knowles </li></ul><ul><li>Genetic Steroid Disorders – M. New </li></ul><ul><li>Nervous System Channelopathies – R. Griggs </li></ul><ul><li>Rare Liver Disorders – R. Sokol </li></ul><ul><li>Rare Lung Diseases – B. Trapnell </li></ul><ul><li>Rare Thrombotic Disorders – T. Ortel </li></ul><ul><li>Urea Cycle Disorders – M. Batshaw </li></ul><ul><li>Vasculitis Clinical Research – P. Merkel </li></ul><ul><li>Data and Technology Coordinating Center (DTCC) – J. Krischer </li></ul>
  10. 10. <ul><li>Collaborative Clinical Research </li></ul><ul><li>Centralized Data Coordination and Technology Development </li></ul><ul><li>Public Resources and Education </li></ul><ul><li>Training </li></ul>U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health ORD, NCRR, NIAMS, NICHD, NHLBI, NIDDK, NINDS, The Data Technology Coordinating Center Coalition of Patient Advocacy Groups (CPAG) Angelman, Rett and Prader-Willi Syndromes Consortium Cholestatic Liver Disease Consortium CLiC Genetic Diseases of Mucociliary Clearance Consortium Rare Genetic Steroid Disorders Consortium Rare Lung Disease Consortium Rare Thrombotic Diseases Consortium
  11. 11. Purposes of Cooperative Rare Diseases Clinical Research Network <ul><li>Facilitate Clinical Research in Rare Diseases </li></ul><ul><li>Training of Clinical Investigators in Rare Diseases Research </li></ul><ul><li>Test Site for Distributed Clinical Data Management </li></ul><ul><li>Support Collaborative Clinical Research </li></ul><ul><ul><li>Longitudinal Studies of Patients with Rare Diseases </li></ul></ul><ul><ul><li>Clinical Pilot or Demonstration Projects </li></ul></ul><ul><ul><li>Access to Information Related to Rare Diseases for Clinicians, Researchers, and the Lay Public </li></ul></ul>
  12. 12. Organization of the RDCRN NIH, ORD, NCRR, NIAMS, NICHD, NHLBI, NIDDK, NINDS Data and Technology Coordinating Center PRC Media Library Researchers Doctors Educators Patient Community Pharmaceutical Companies RDC Center Registries Contact Registry Clinical Research Data Bank Clinical Data Standardization Groups Patients Public Website Site Site Site RDC Center Site Site Site Site Site Site RDC Center CPAG Support Groups DSMB
  13. 13. Data and Technology Coordinating Center Dr. Jeffrey Krischer <ul><ul><li>Collaboration in design of clinical protocols, data management and analysis </li></ul></ul><ul><ul><li>Develop a coordinated clinical data management system for the collection, storage and analysis of data from multiple diseases and multiple clinical sites </li></ul></ul><ul><ul><li>Develop tools for web based recruitment and referral, cross disease data mining </li></ul></ul><ul><ul><li>Construct a portal for access and integration of public data resources </li></ul></ul><ul><ul><li>Promote communication and coordination of Network (including internet video conferencing, centralized secure website) </li></ul></ul>
  14. 14. Current Accruals - Participants Registered <ul><li>Angelman, Rett, & Prader-Willi Syndromes Consortium – 273 </li></ul><ul><li>Bone Marrow Failure Disease Consortium – 67 </li></ul><ul><li>Consortium for Clinical Investigation of Neurologic Channelopathies – 18 </li></ul><ul><li>Genetic Diseases of Mucociliary Clearance Consortium – 17 </li></ul><ul><li>Urea Cycle Disorders Consortium – 29 </li></ul><ul><li>Vasculitis Clinical Research Consortium – 15 </li></ul><ul><li>Total -419 Patients </li></ul><ul><ul><li>48 Diseases </li></ul></ul><ul><ul><li>34 Patient Advocacy Groups </li></ul></ul><ul><ul><li>18 studies recruiting </li></ul></ul><ul><ul><li>10 studies not yet recruiting </li></ul></ul><ul><ul><li>9 International Sites </li></ul></ul>
  15. 15. Inventory and Evaluation of Clinical Research Networks (IECRN) Projects <ul><li>https://www.clinicalresearchnetworks.org/default.asp </li></ul><ul><li>(>240 Clinical Research Networks) </li></ul><ul><li>To develop an inventory and database of clinical research networks. The inventory will be a searchable data base available as a tool to search for eligible, participating clinical networks; </li></ul><ul><li>To describe organizational and operational characteristics of a sample of networks in several key areas; </li></ul><ul><li>To identify and examine networks best practices that lead to successful achievement of specified outcomes, including increased efficiency, promotion of interactivity within the network or across networks, and broadening of research scope. </li></ul>
  16. 16. Roadmap for Medical Research, the Office of Portfolio Analysis and Strategic Initiatives (OPASI) <ul><li>Identify ideas for Roadmap initiatives to be funded in FY2008 </li></ul><ul><li>Consultation meetings being held in July and September 2006 </li></ul><ul><li>Solicit additional ideas from the science and lay communities using a Web-based Request for Information (RFI). </li></ul><ul><li>Initial prioritization by IC Directors </li></ul><ul><li>Review by ACD and NIH Director selection </li></ul>
  17. 17. Criteria for Roadmap Initiatives Goal is to accelerate the discovery and translation of scientific knowledge into public health benefits <ul><li>Is the proposed initiative truly transforming—could it dramatically affect how biomedical and/or behavioral research is conducted over the next decade? </li></ul><ul><li>Will the outcomes from the proposed initiative synergistically promote and advance the individual missions of NIH ICs to benefit health? </li></ul><ul><li>Does the proposed initiative require participation from NIH as a whole and/or does it address an area of science that does not clearly fall within the mission of any one IC or OD program office? </li></ul><ul><li>Is the proposed initiative something that no other entity is likely or able to do, and is there a public health benefit to having the results of the research in the public domain? </li></ul>
  18. 18. Coordinated Efforts for Successful Orphan Product Development/Rare Diseases Research <ul><li>Industry (Domestic and International, Large and Small) </li></ul><ul><li>Academic and Research Community-Multidisciplinary Research Efforts </li></ul><ul><li>Medical Specialty Societies </li></ul><ul><li>Patient Advocacy Groups </li></ul><ul><li>Federal Government </li></ul><ul><ul><li>Regulatory </li></ul></ul><ul><ul><li>Reimbursement </li></ul></ul><ul><ul><li>Research </li></ul></ul><ul><ul><ul><li>Intramural Research Program </li></ul></ul></ul><ul><ul><ul><li>Extramural Research Program </li></ul></ul></ul>
  19. 19. Promoting Quality Genetic Testing <ul><li>Formed - National Laboratory Network for Rare Disease Genetic Testing (NLN) http://www.rarediseasetesting.org </li></ul><ul><li>Gaining acceptance of global testing services </li></ul><ul><li>CLIA Certification Standards (USA) </li></ul><ul><li>Interpretation of results with appropriate patient counseling </li></ul><ul><li>Collaboration, Education, and Genetic Test Translation Program (CETT) Prototype </li></ul><ul><li>Partnership and networks to improve research translation and data sharing </li></ul><ul><ul><ul><li>Between and among research and clinical laboratories </li></ul></ul></ul><ul><ul><ul><li>Among research investigators, clinical laboratories, patient groups, clinicians, payers </li></ul></ul></ul>
  20. 20. Challenges and Strategies- Goal: Quicker and Less Expensive Development of Orphan Products <ul><li>Provide Global Access to Clinical Studies and Clinical Trials of Private and Public Sectors </li></ul><ul><li>Develop Globalization of Research Efforts and Common Protocols with Multidisciplinary Research Teams </li></ul><ul><li>Continue Efforts for Harmonization of Research Data for Regulatory Purposes </li></ul><ul><li>Establish Better Definitions of Patient Responders with Development of Appropriate Biomarkers and Surrogate Endpoints for Safety and Efficacy </li></ul><ul><li>Utilize Screening Processes of Industry and Government Chemical Libraries </li></ul>
  21. 21. Challenges and Strategies- Goal: To Obtain the Correct Diagnosis and to Improve Dissemination of Information <ul><li>Expansion of Newborn Screening Programs </li></ul><ul><li>Increased Development of Genetic and Diagnostic Tests with Appropriate Counseling - CETT Pilot Program </li></ul><ul><li>Increase Educational Efforts for the Public and Health Care Providers’ Communities </li></ul><ul><ul><li>Diagnostic Criteria Rare Diseases and Conditions </li></ul></ul><ul><ul><li>Disease Specific Available Treatments </li></ul></ul><ul><ul><li>Standards of Care for Emergency and Critical Care Treatments </li></ul></ul><ul><ul><li>Basis of Genetics and Inherited Disorders </li></ul></ul><ul><li>Expand Global Linkages of Patient Advocacy Group Networks </li></ul><ul><li>Develop Inclusive Web-Based Inventory of Global Rare Diseases Research Studies/Intervention Activities and Information Resources </li></ul>
  22. 22. Challenges and Strategies – Goal: To Meet Patient and Family Needs <ul><li>Identify and Expand Worldwide Partnerships and Collaborations of Patient Advocacy Groups </li></ul><ul><li>Identify Economic Impact of Rare Diseases on Families and Individuals </li></ul><ul><li>Expand Training Programs on Living and Coping with Rare and Genetic Diseases </li></ul><ul><li>Gaining Acceptance for Disabilities and Improving Educational Opportunities for Patients </li></ul><ul><li>Maximize Access to Rehabilitation Therapies – Physical, Hearing, Speech, Vocational, Occupational, </li></ul><ul><li>Assure Worldwide Access to Safe and Effective Products for the Prevention, Diagnosis, and Treatment of Rare Diseases </li></ul>
  23. 23. ORD Website http://rarediseases.info.nih.gov/ <ul><li>Rare Diseases Information – Pub Med </li></ul><ul><li>Research and Clinical Trials - CRISP, ClinicalTrials.gov </li></ul><ul><li>Patient Support Groups - DIRLINE > 1200 Patient Advocacy Groups, NORD, Genetic Alliance </li></ul><ul><li>Patient Travel & Lodging </li></ul><ul><li>Genetics Information – Gene Tests, OMIM, NCHPEG </li></ul><ul><li>Research Resources </li></ul><ul><li>Scientific Workshops, Archived Reports </li></ul><ul><li>Website Trends </li></ul><ul><ul><li>~ 146,000 Users per Month </li></ul></ul><ul><ul><li>Average Visit – 14 Minutes </li></ul></ul>
  24. 24. The Genetic and Rare Diseases Information Center (NHGRI/ORD) <ul><li>>14,500 Inquiries (2002 – 2006) </li></ul><ul><li>> 4,000 Rare Diseases or Conditions </li></ul><ul><li>Toll-free 1-888-205-3223 (USA) </li></ul><ul><li>International Access Number: 301-519-3194 </li></ul><ul><li>Fax: 240-632-9164 </li></ul><ul><li>E-mail: [email_address] </li></ul>
  25. 25. Office of Rare Diseases National Institutes of Health <ul><li>6100 Executive Boulevard </li></ul><ul><li>Room 3B-01, MSC - 7518 </li></ul><ul><li>Bethesda, MD 20892-7518 </li></ul><ul><li>Voice: 301-402-4336 </li></ul><ul><li>Fax: 301-480-9655 </li></ul><ul><li>E-mail: [email_address] </li></ul><ul><li>Website: http://rarediseases.info.nih.gov/ </li></ul>
  26. 26. Office of Rare Diseases - Staff <ul><li>Ms. Mary Demory </li></ul><ul><li>Ms. Marita Eddy (Angel Flight) </li></ul><ul><li>Dr. John Ferguson (Consultant) </li></ul><ul><li>Dr. Stephen C. Groft </li></ul><ul><li>Dr. Rashmi Gopal-Srivastava </li></ul><ul><li>Mr. Christopher Griffin </li></ul><ul><li>Ms. Henrietta Hyatt-Knorr </li></ul><ul><li>Ms. Sharon Macauley </li></ul><ul><li>Ms. Geraldine Pollen (Consultant) </li></ul><ul><li>Dr. Giovanna Spinella (Consultant) </li></ul><ul><li>Dr. William Gahl (Clinical Director, NHGRI) </li></ul>
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