collaborative research and development activities
DESCRIPTION
TRANSCRIPT
Collaborative Research and Collaborative Research and Development ActivitiesDevelopment Activities
Stephen C. Groft, Pharm.D.Stephen C. Groft, Pharm.D. Office of Rare DiseasesOffice of Rare Diseases
National Institutes of HealthNational Institutes of HealthDepartment of Health and Human Department of Health and Human
ServicesServices__________________________________________________
Genetic Alliance Annual MeetingGenetic Alliance Annual MeetingJuly 28, 2006July 28, 2006
National Institute of Mental Health
National Institute of Neurological Disorders and Stroke
National Library of Medicine
A View of the NIH A View of the NIH
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,
ODDeputy and Associate
DirectorsAdministrative Offices
Advisory Committee to the Director
Rare Diseases Act of 2002Rare Diseases Act of 2002(Rare Disease Prevalence < (Rare Disease Prevalence <
200,000 in USA)200,000 in USA)
Public Law 107-280 (November 6, Public Law 107-280 (November 6, 2002)2002)
Recommend Research and Public Recommend Research and Public Education Agendas at NIHEducation Agendas at NIH
Promote Coordination and Promote Coordination and Collaboration of Rare Diseases Collaboration of Rare Diseases Activities Activities
Develop Information Center (NHGRI)Develop Information Center (NHGRI)
Office of Rare Diseases (ORD)Office of Rare Diseases (ORD)
Intramural Research Program Intramural Research Program • Bench to Bedside Program – IRP/ERPBench to Bedside Program – IRP/ERP• Office of Technology Transfer (Neglected Office of Technology Transfer (Neglected
Diseases, Rare Diseases)Diseases, Rare Diseases)• Clinical and Biochemical Genetics Training Clinical and Biochemical Genetics Training
ProgramProgram• Patient Travel – Angel FlightPatient Travel – Angel Flight
Office of Rare Diseases (ORD)Office of Rare Diseases (ORD)
Extramural Research ProgramExtramural Research Program• Scientific Conferences Scientific Conferences
American Chemical Society American Chemical Society
• Rare Diseases Clinical Research Rare Diseases Clinical Research Network (RDCRN)Network (RDCRN)
• RFA and PA Participation RFA and PA Participation • Office of Policy Analysis and Office of Policy Analysis and
Strategic Initiatives (OPASI) Strategic Initiatives (OPASI)
Office of Rare DiseasesOffice of Rare Diseases Trans-NIH Working Group on Rare Diseases Trans-NIH Working Group on Rare Diseases
ResearchResearch Genetic Testing – CETT ProgramGenetic Testing – CETT Program Bio-specimen Collection, Storage, and Bio-specimen Collection, Storage, and
DistributionDistribution Rare Cancers EmphasisRare Cancers Emphasis AmyloidosisAmyloidosis Future: Need for Special Emphasis Panel Future: Need for Special Emphasis Panel
Review (1987, 1998, 2007 ?)Review (1987, 1998, 2007 ?) Future: Need of Patient/Research RegistryFuture: Need of Patient/Research Registry Future: Survey of Prevalence of Rare Future: Survey of Prevalence of Rare
Diseases in USADiseases in USA
Office of Rare Diseases (ORD)Office of Rare Diseases (ORD) Information Development and Information Development and
Dissemination and Education ActivitiesDissemination and Education Activities• DIRLINE, Clinical Trials.gov, Pub Med, DIRLINE, Clinical Trials.gov, Pub Med,
Gene Tests, OMIMGene Tests, OMIM• Seminars for PAG LeadershipSeminars for PAG Leadership• WebsiteWebsite• Information Center (NHGRI)Information Center (NHGRI)• National Coalition for Health Professional National Coalition for Health Professional
Education in Genetics (NCHPEG)Education in Genetics (NCHPEG)
Rare Diseases Clinical Research Rare Diseases Clinical Research Network (RDCRN)Network (RDCRN)
Rare Diseases Clinical Research Centers Rare Diseases Clinical Research Centers • $1.25 Million/Year for 5 Years – 10 Consortia$1.25 Million/Year for 5 Years – 10 Consortia• Focused on a Subgroup of DiseasesFocused on a Subgroup of Diseases• Consortium of Clinical Investigators, Institutions, Consortium of Clinical Investigators, Institutions,
Patient Support GroupsPatient Support Groups
Data and Technology Coordinating CenterData and Technology Coordinating Center• $2 Million/Year for 5 years $2 Million/Year for 5 years
Utilize Resources of the General Clinical Utilize Resources of the General Clinical Research CentersResearch Centers
http://rarediseasesnetwork.epi.usf.edu/http://rarediseasesnetwork.epi.usf.edu/
Research Network Consortia (2006)Research Network Consortia (2006) http://rarediseasesnetwork.epi.usf.edu/http://rarediseasesnetwork.epi.usf.edu/
Angelman, Rett, Prader-Willi Syndromes – A. BeaudetAngelman, Rett, Prader-Willi Syndromes – A. Beaudet Bone Marrow Failure – J. MaciejewskiBone Marrow Failure – J. Maciejewski Genetic Diseases of Mucociliary Clearance – M. KnowlesGenetic Diseases of Mucociliary Clearance – M. Knowles Genetic Steroid Disorders – M. NewGenetic Steroid Disorders – M. New Nervous System Channelopathies – R. GriggsNervous System Channelopathies – R. Griggs Rare Liver Disorders – R. SokolRare Liver Disorders – R. Sokol Rare Lung Diseases – B. TrapnellRare Lung Diseases – B. Trapnell Rare Thrombotic Disorders – T. OrtelRare Thrombotic Disorders – T. Ortel Urea Cycle Disorders – M. BatshawUrea Cycle Disorders – M. Batshaw Vasculitis Clinical Research – P. MerkelVasculitis Clinical Research – P. Merkel Data and Technology Coordinating Center (DTCC) – J. Data and Technology Coordinating Center (DTCC) – J.
KrischerKrischer
• Collaborative Clinical Research
• Centralized Data Coordination and Technology Development
• Public Resources and Education
• Training
U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICESU.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES
National Institutes of HealthNational Institutes of HealthORD, NCRR, NIAMS, NICHD, NHLBI, NIDDK, ORD, NCRR, NIAMS, NICHD, NHLBI, NIDDK,
NINDS,NINDS,
The Data Technology
Coordinating Center
Coalition of PatientAdvocacy 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
Purposes of Cooperative Rare Diseases Purposes of Cooperative Rare Diseases Clinical Research NetworkClinical Research Network
Facilitate Clinical Research in Rare Diseases Facilitate Clinical Research in Rare Diseases Training of Clinical Investigators in Rare Training of Clinical Investigators in Rare
Diseases ResearchDiseases Research Test Site for Distributed Clinical Data Test Site for Distributed Clinical Data
ManagementManagement Support Collaborative Clinical ResearchSupport Collaborative Clinical Research
• Longitudinal Studies of Patients with Rare Longitudinal Studies of Patients with Rare DiseasesDiseases
• Clinical Pilot or Demonstration ProjectsClinical Pilot or Demonstration Projects• Access to Information Related to Rare Diseases Access to Information Related to Rare Diseases
for Clinicians, Researchers, and the Lay Publicfor Clinicians, Researchers, and the Lay Public
Organization of the RDCRNOrganization of the RDCRNPatients
NIH, ORD, NCRR, NIH, ORD, NCRR, NIAMS,NIAMS,
NICHD, NHLBI, NICHD, NHLBI, NIDDK, NINDS NIDDK, NINDS
Data and TechnologyCoordinating Center PRC
MediaLibrary
Public Website
ResearchersDoctors Educators
PatientCommunity
PharmaceuticalCompanies
Site
Site
Site
RDCCenter
Site
Site
Site
RDCCenter
Site
Site
Site
RDCCenter
Registries
CPAG
SupportGroups
ContactRegistry
Clinical ResearchData Bank
DSMB
Clinical DataStandardization
Groups
Data and Technology Coordinating CenterData and Technology Coordinating CenterDr. Jeffrey KrischerDr. Jeffrey Krischer
• Collaboration in design of clinical protocols, data Collaboration in design of clinical protocols, data management and analysismanagement and analysis
• Develop a coordinated clinical data management Develop a coordinated clinical data management system for the collection, storage and analysis of data system for the collection, storage and analysis of data from multiple diseases and multiple clinical sitesfrom multiple diseases and multiple clinical sites
• Develop tools for web based recruitment and referral, Develop tools for web based recruitment and referral, cross disease data miningcross disease data mining
• Construct a portal for access and integration of public Construct a portal for access and integration of public data resourcesdata resources
• Promote communication and coordination of Network Promote communication and coordination of Network (including internet video conferencing, centralized (including internet video conferencing, centralized secure website)secure website)
Current Accruals - Participants Current Accruals - Participants RegisteredRegistered
Angelman, Rett, & Prader-Willi Syndromes Angelman, Rett, & Prader-Willi Syndromes Consortium – 273Consortium – 273
Bone Marrow Failure Disease Consortium – 67Bone Marrow Failure Disease Consortium – 67 Consortium for Clinical Investigation of Neurologic Consortium for Clinical Investigation of Neurologic
Channelopathies – 18 Channelopathies – 18 Genetic Diseases of Mucociliary Clearance Genetic Diseases of Mucociliary Clearance
Consortium – 17Consortium – 17 Urea Cycle Disorders Consortium – 29 Urea Cycle Disorders Consortium – 29 Vasculitis Clinical Research Consortium – 15 Vasculitis Clinical Research Consortium – 15 Total -419 Patients Total -419 Patients
48 Diseases48 Diseases 34 Patient Advocacy Groups34 Patient Advocacy Groups 18 studies recruiting18 studies recruiting 10 studies not yet recruiting10 studies not yet recruiting 9 International Sites9 International Sites
Inventory and Evaluation of Clinical Inventory and Evaluation of Clinical Research Networks (IECRN) ProjectsResearch Networks (IECRN) Projects
https://www.clinicalresearchnetworks.org/default.asphttps://www.clinicalresearchnetworks.org/default.asp
(>240 Clinical Research Networks)(>240 Clinical Research Networks)
To develop an inventory and database of clinical research To develop an inventory and database of clinical research networks. The inventory will be a searchable data base networks. The inventory will be a searchable data base available as a tool to search for eligible, participating available as a tool to search for eligible, participating clinical networks;clinical networks;
To describe organizational and operational characteristics To describe organizational and operational characteristics
of a sample of networks in several key areas;of a sample of networks in several key areas;
To identify and examine networks best practices that lead To identify and examine networks best practices that lead to successful achievement of specified outcomes, including to successful achievement of specified outcomes, including increased efficiency, promotion of interactivity within the increased efficiency, promotion of interactivity within the network or across networks, and broadening of research network or across networks, and broadening of research scope. scope.
Roadmap for Medical Research, Roadmap for Medical Research, the Office of Portfolio Analysis and the Office of Portfolio Analysis and
Strategic Initiatives (OPASI)Strategic Initiatives (OPASI) Identify ideas for Roadmap initiatives to be Identify ideas for Roadmap initiatives to be
funded in FY2008funded in FY2008 Consultation meetings being held in July Consultation meetings being held in July
and September 2006and September 2006 Solicit additional ideas from the science Solicit additional ideas from the science
and lay communities using a Web-based and lay communities using a Web-based Request for Information (RFI). Request for Information (RFI).
Initial prioritization by IC DirectorsInitial prioritization by IC Directors Review by ACD and NIH Director selectionReview by ACD and NIH Director selection
Criteria for Roadmap InitiativesCriteria for Roadmap Initiatives Goal is to accelerate the discovery and translation of Goal is to accelerate the discovery and translation of
scientific knowledge into public health benefitsscientific knowledge into public health benefits
Is the proposed initiative truly transforming—could it Is the proposed initiative truly transforming—could it dramatically affect how biomedical and/or behavioral dramatically affect how biomedical and/or behavioral research is conducted over the next decade?research is conducted over the next decade?
Will the outcomes from the proposed initiative Will the outcomes from the proposed initiative synergistically promote and advance the individual synergistically promote and advance the individual missions of NIH ICs to benefit health?missions of NIH ICs to benefit health?
Does the proposed initiative require participation Does the proposed initiative require participation from NIH as a whole and/or does it address an area from NIH as a whole and/or does it address an area of science that does not clearly fall within the of science that does not clearly fall within the mission of any one IC or OD program office?mission of any one IC or OD program office?
Is the proposed initiative something that no other Is the proposed initiative something that no other entity is likely or able to do, and is there a public entity is likely or able to do, and is there a public health benefit to having the results of the research health benefit to having the results of the research in the public domain?in the public domain?
Coordinated Efforts for Successful Coordinated Efforts for Successful Orphan Product Development/Rare Orphan Product Development/Rare
Diseases ResearchDiseases Research
Industry (Domestic and International, Large Industry (Domestic and International, Large and Small)and Small)
Academic and Research Community-Academic and Research Community-Multidisciplinary Research EffortsMultidisciplinary Research Efforts
Medical Specialty SocietiesMedical Specialty Societies Patient Advocacy Groups Patient Advocacy Groups Federal GovernmentFederal Government
• RegulatoryRegulatory• ReimbursementReimbursement• ResearchResearch
Intramural Research ProgramIntramural Research Program Extramural Research ProgramExtramural Research Program
Promoting Quality Genetic TestingPromoting Quality Genetic Testing
Formed - National Laboratory Network for Rare Formed - National Laboratory Network for Rare Disease Genetic Testing (NLN) Disease Genetic Testing (NLN) http://www.rarediseasetesting.org http://www.rarediseasetesting.org
Gaining acceptance of global testing servicesGaining acceptance of global testing services CLIA Certification Standards (USA)CLIA Certification Standards (USA) Interpretation of results with appropriate patient Interpretation of results with appropriate patient
counselingcounseling Collaboration, Education, and Genetic Test Collaboration, Education, and Genetic Test
Translation Program (CETT) PrototypeTranslation Program (CETT) Prototype Partnership and networks to improve research Partnership and networks to improve research
translation and data sharing translation and data sharing Between and among research and clinical Between and among research and clinical
laboratories laboratories Among research investigators, clinical laboratories, Among research investigators, clinical laboratories,
patient groups, clinicians, payerspatient groups, clinicians, payers
Challenges and Strategies- Goal: Quicker Challenges and Strategies- Goal: Quicker and Less Expensive Development of and Less Expensive Development of
Orphan ProductsOrphan Products Provide Global Access to Clinical Studies Provide Global Access to Clinical Studies
and Clinical Trials of Private and Public and Clinical Trials of Private and Public SectorsSectors
Develop Globalization of Research Efforts Develop Globalization of Research Efforts and Common Protocols with and Common Protocols with Multidisciplinary Research TeamsMultidisciplinary Research Teams
Continue Efforts for Harmonization of Continue Efforts for Harmonization of Research Data for Regulatory PurposesResearch Data for Regulatory Purposes
Establish Better Definitions of Patient Establish Better Definitions of Patient Responders with Development of Responders with Development of Appropriate Biomarkers and Surrogate Appropriate Biomarkers and Surrogate Endpoints for Safety and EfficacyEndpoints for Safety and Efficacy
Utilize Screening Processes of Industry and Utilize Screening Processes of Industry and Government Chemical LibrariesGovernment Chemical Libraries
Challenges and Strategies- Goal: To Obtain the Challenges and Strategies- Goal: To Obtain the Correct Diagnosis and to Improve Dissemination of Correct Diagnosis and to Improve Dissemination of
InformationInformation Expansion of Newborn Screening Programs Expansion of Newborn Screening Programs
Increased Development of Genetic and Diagnostic Increased Development of Genetic and Diagnostic Tests with Appropriate Counseling - CETT Pilot Tests with Appropriate Counseling - CETT Pilot ProgramProgram
Increase Educational Efforts for the Public and Increase Educational Efforts for the Public and Health Care Providers’ Communities Health Care Providers’ Communities • Diagnostic Criteria Rare Diseases and ConditionsDiagnostic Criteria Rare Diseases and Conditions• Disease Specific Available TreatmentsDisease Specific Available Treatments• Standards of Care for Emergency and Critical Care Standards of Care for Emergency and Critical Care
TreatmentsTreatments• Basis of Genetics and Inherited Disorders Basis of Genetics and Inherited Disorders
Expand Global Linkages of Patient Advocacy Group Expand Global Linkages of Patient Advocacy Group Networks Networks
Develop Inclusive Web-Based Inventory of Global Develop Inclusive Web-Based Inventory of Global Rare Diseases Research Studies/Intervention Rare Diseases Research Studies/Intervention Activities and Information Resources Activities and Information Resources
Challenges and Strategies – Goal: To Challenges and Strategies – Goal: To Meet Patient and Family NeedsMeet Patient and Family Needs
Identify and Expand Worldwide Partnerships Identify and Expand Worldwide Partnerships and Collaborations of Patient Advocacy Groupsand Collaborations of Patient Advocacy Groups
Identify Economic Impact of Rare Diseases on Identify Economic Impact of Rare Diseases on Families and IndividualsFamilies and Individuals
Expand Training Programs on Living and Expand Training Programs on Living and Coping with Rare and Genetic Diseases Coping with Rare and Genetic Diseases
Gaining Acceptance for Disabilities and Gaining Acceptance for Disabilities and Improving Educational Opportunities for Improving Educational Opportunities for PatientsPatients
Maximize Access to Rehabilitation Therapies – Maximize Access to Rehabilitation Therapies – Physical, Hearing, Speech, Vocational, Physical, Hearing, Speech, Vocational, Occupational, Occupational,
Assure Worldwide Access to Safe and Effective Assure Worldwide Access to Safe and Effective Products for the Prevention, Diagnosis, and Products for the Prevention, Diagnosis, and Treatment of Rare DiseasesTreatment of Rare Diseases
ORD WebsiteORD Websitehttp://rarediseases.info.nih.gov/http://rarediseases.info.nih.gov/
Rare Diseases Information – Pub MedRare Diseases Information – Pub Med
Research and Clinical Trials - CRISP, Research and Clinical Trials - CRISP, ClinicalTrials.govClinicalTrials.gov
Patient Support Groups - DIRLINE > 1200 Patient Patient Support Groups - DIRLINE > 1200 Patient Advocacy Groups, NORD, Genetic AllianceAdvocacy Groups, NORD, Genetic Alliance
Patient Travel & LodgingPatient Travel & Lodging
Genetics Information – Gene Tests, OMIM, NCHPEGGenetics Information – Gene Tests, OMIM, NCHPEG Research ResourcesResearch Resources Scientific Workshops, Archived ReportsScientific Workshops, Archived Reports Website TrendsWebsite Trends
• ~ 146,000 Users per Month~ 146,000 Users per Month
• Average Visit – 14 MinutesAverage Visit – 14 Minutes
The Genetic and Rare Diseases The Genetic and Rare Diseases Information Center (NHGRI/ORD)Information Center (NHGRI/ORD)
>14,500 Inquiries (2002 – 2006) >14,500 Inquiries (2002 – 2006)
> 4,000 Rare Diseases or Conditions> 4,000 Rare Diseases or Conditions
Toll-free 1-888-205-3223 (USA)Toll-free 1-888-205-3223 (USA)
International Access Number: 301-International Access Number: 301-519-3194519-3194
Fax: 240-632-9164Fax: 240-632-9164
E-mail: E-mail: [email protected]@nih.gov
Office of Rare DiseasesOffice of Rare DiseasesNational Institutes of HealthNational Institutes of Health
6100 Executive Boulevard 6100 Executive Boulevard
Room 3B-01, MSC - 7518Room 3B-01, MSC - 7518
Bethesda, MD 20892-7518Bethesda, MD 20892-7518
Voice: 301-402-4336Voice: 301-402-4336
Fax: 301-480-9655Fax: 301-480-9655
E-mail: E-mail: [email protected]@nih.gov
Website: Website: http://rarediseases.info.nih.gov/http://rarediseases.info.nih.gov/
Office of Rare Diseases - StaffOffice of Rare Diseases - Staff Ms. Mary DemoryMs. Mary Demory Ms. Marita Eddy (Angel Flight)Ms. Marita Eddy (Angel Flight) Dr. John Ferguson (Consultant)Dr. John Ferguson (Consultant) Dr. Stephen C. GroftDr. Stephen C. Groft Dr. Rashmi Gopal-SrivastavaDr. Rashmi Gopal-Srivastava Mr. Christopher GriffinMr. Christopher Griffin Ms. Henrietta Hyatt-KnorrMs. Henrietta Hyatt-Knorr Ms. Sharon MacauleyMs. Sharon Macauley Ms. Geraldine Pollen (Consultant)Ms. Geraldine Pollen (Consultant) Dr. Giovanna Spinella (Consultant)Dr. Giovanna Spinella (Consultant) Dr. William Gahl (Clinical Director, NHGRI)Dr. William Gahl (Clinical Director, NHGRI)