Successful collaboration for Successful collaboration for research development between research development between

the NIH and patient the NIH and patient organisationsorganisations

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 ServicesDepartment of Health and Human Services

__________________________________________________EURORDIS 10EURORDIS 10thth Anniversary Meeting Anniversary Meeting

Gaining Access to Research ResourcesGaining Access to Research ResourcesParis FranceParis FranceMay 4, 2007May 4, 2007

National Institute of Mental Health

National Institute of Neurological Disorders and Stroke

National Library of Medicine

Identifying Research Partners at the NIH, USAIdentifying Research Partners at the NIH, USA

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 DietarySupplements, Office of Behavioral and SocialSciences Research, Office of Disease Prevention, Office of Rare Diseases,

ODDeputy and Associate

DirectorsAdministrative Offices

Advisory Committee to the Director

NIH Emphasis on Patient Advocacy NIH Emphasis on Patient Advocacy Groups as CollaboratorsGroups as Collaborators

Institute of Medicine/National Academy of Institute of Medicine/National Academy of Sciences Publication Sciences Publication -- Opportunities and Opportunities and Public Needs: Improving Priority Setting and Public Needs: Improving Priority Setting and Public Input at NIH (1998) Public Input at NIH (1998) http://www.nap.edu/readingroom/books/nhttp://www.nap.edu/readingroom/books/nih/ih/

NIH Director NIH Director -- Enhancing Public Enhancing Public Participation in NIH Activities (1998) Participation in NIH Activities (1998) http://copr.nih.gov/minutes/fall1998.shtmhttp://copr.nih.gov/minutes/fall1998.shtm

NIH Emphasis on Patient Advocacy NIH Emphasis on Patient Advocacy Groups as CollaboratorsGroups as Collaborators

Advisory Councils/Special Advisory Councils/Special CommitteesCommitteesCouncil of Public RepresentativesCouncil of Public RepresentativesInstitutional Review BoardsInstitutional Review BoardsAdvice on NIH Research PrioritiesAdvice on NIH Research Priorities•• NHLBI, NINDS, NCI Conference for PAGsNHLBI, NINDS, NCI Conference for PAGsIdentify Public ConcernsIdentify Public ConcernsParticipate in Scientific ConferencesParticipate in Scientific ConferencesReview of DiseaseReview of Disease--Specific Specific InformationInformation•• Fact SheetsFact Sheets•• Policy StatementsPolicy Statements

Selected Tasks of Patient Selected Tasks of Patient Advocacy GroupsAdvocacy Groups

Establish Medical and Scientific Advisory Establish Medical and Scientific Advisory BoardsBoardsSupport Research and Training ProgramsSupport Research and Training ProgramsProvide Ready Access to MediaProvide Ready Access to MediaServe as Direct Links to Patients and Serve as Direct Links to Patients and PhysiciansPhysiciansTranslate Research Results to CommunitiesTranslate Research Results to CommunitiesOrganize Research Based Conferences and Organize Research Based Conferences and Meetings for Patients/Families/Caregivers Meetings for Patients/Families/Caregivers

Activities of Patient Advocacy Activities of Patient Advocacy GroupsGroups

Recruit Patients for Clinical StudiesRecruit Patients for Clinical StudiesIdentify Cohorts of Patients with Range of Identify Cohorts of Patients with Range of Phenotypic Expression Phenotypic Expression Provide Developmental Assistance and Provide Developmental Assistance and Review Review •• Study Protocol Study Protocol •• Informed Consent DocumentInformed Consent Document

Acquisition and Sharing of Patient Acquisition and Sharing of Patient Biomaterials Biomaterials Appearances Before Regulatory Agencies Appearances Before Regulatory Agencies and Review Divisions and Review Divisions

Needs of Patient Advocacy Needs of Patient Advocacy GroupsGroups

Education of Leadership Education of Leadership –– Science Behind Science Behind DiseaseDiseaseKnowledge of Cutting Edge Scientific Tools Knowledge of Cutting Edge Scientific Tools and Technologyand TechnologyKnowledge of Government and Industry Knowledge of Government and Industry Research Structure, Activities, Research Structure, Activities, Requirements, Operating Environment, and Requirements, Operating Environment, and ProceduresProceduresPerspectives of ResearchersPerspectives of ResearchersRegulatory Requirements for Research Regulatory Requirements for Research StudiesStudies

ORD/NORD Regional Workshops for Patient ORD/NORD Regional Workshops for Patient Support Organizations Support Organizations –– A Model ProgramA Model Program

The Types of ResearchThe Types of ResearchPatient Travel to Research and Treatment SitesPatient Travel to Research and Treatment SitesIntramural/Extramural Research ProgramsIntramural/Extramural Research ProgramsScientific Workshop ProgramScientific Workshop ProgramNIH Patient Recruitment and ReferralNIH Patient Recruitment and ReferralFDA Office of Orphan Products Development FDA Office of Orphan Products Development OOPD Grants Program and Orphan Designation OOPD Grants Program and Orphan Designation ProcessProcessProduct Regulatory Evaluation and ResearchProduct Regulatory Evaluation and ResearchPatenting/Licensing ofPatenting/Licensing of Genetic MaterialGenetic MaterialIRB/Human Subjects Protection/Ethics Issues in IRB/Human Subjects Protection/Ethics Issues in Research Research Implications of Genetic TestingImplications of Genetic Testing

Selected Outcomes of the Selected Outcomes of the Scientific Conferences ProgramScientific Conferences Program

Identify Research OpportunitiesIdentify Research OpportunitiesEstablish Research PrioritiesEstablish Research PrioritiesDevelop Program Announcements and Solicit R01 Develop Program Announcements and Solicit R01 ApplicationsApplicationsEstablish Diagnostic and Monitoring CriteriaEstablish Diagnostic and Monitoring CriteriaDevelop Animal ModelsDevelop Animal ModelsSupport Registries Support Registries -- Patient and Tissue Patient and Tissue Develop Research Protocols, Collaborative Research Develop Research Protocols, Collaborative Research Arrangements, and Plan Clinical TrialsArrangements, and Plan Clinical TrialsDisseminate Results to Targeted Professional and Disseminate Results to Targeted Professional and Voluntary Health Organizations Voluntary Health Organizations CoCo--Sponsor with Patient Advocacy Groups, Academic Sponsor with Patient Advocacy Groups, Academic Investigators, Industry, Foundations, Intramural and Investigators, Industry, Foundations, Intramural and Extramural Research ProgramsExtramural Research Programs

Meeting Patient and Family NeedsMeeting Patient and Family NeedsIdentify and Expand Worldwide Identify and Expand Worldwide Partnerships and Collaborations of Patient Partnerships and Collaborations of Patient Advocacy GroupsAdvocacy GroupsIdentify Economic Impact of Rare Diseases Identify Economic Impact of Rare Diseases on Families and Individualson Families and IndividualsExpand 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 PatientsPatientsMaximize 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 Assure Worldwide Access to Safe and Effective Products for the Prevention, Effective Products for the Prevention, Diagnosis, and Treatment of Rare DiseasesDiagnosis, and Treatment of Rare Diseases

Coordinated Efforts for Successful Orphan Product Coordinated Efforts for Successful Orphan Product Development/Rare Diseases ResearchDevelopment/Rare Diseases Research

Pharmaceutical, Biotechnology, and Medical Pharmaceutical, Biotechnology, and Medical Devices IndustriesDevices IndustriesAcademic and Private Foundation Research Academic and Private Foundation Research CommunitiesCommunities--Multidisciplinary Research Multidisciplinary Research EffortsEffortsMedical Specialty Societies and Healthcare Medical Specialty Societies and Healthcare ProvidersProvidersPatient Advocacy Groups Patient Advocacy Groups Federal GovernmentFederal Government•• RegulatoryRegulatory•• ReimbursementReimbursement•• ResearchResearch•• Health Care ServicesHealth Care Services•• PreventionPrevention

How Can YOU Help? Societal How Can YOU Help? Societal Needs and ValuesNeeds and Values

Mobilize Health Professionals and Society to Take Mobilize Health Professionals and Society to Take ActionAction

Obtain Cooperative and Collaborative Support From Obtain Cooperative and Collaborative Support From All Nations and Partners in Health Research and All Nations and Partners in Health Research and Product DevelopmentProduct Development

Improve Health Literacy of Populations to Enable Improve Health Literacy of Populations to Enable InformationInformation--Based Decision MakingBased Decision Making

Reduce Disparities in Health with Ready Access to Reduce Disparities in Health with Ready Access to Information and Interventions for Diagnosis, Information and Interventions for Diagnosis, Prevention, and Treatment of Rare DiseasesPrevention, and Treatment of Rare Diseases

How Can YOU Help? Research NeedsHow Can YOU Help? Research NeedsProvide Global Access to Clinical Studies and Clinical Provide Global Access to Clinical Studies and Clinical Trials Trials

Develop Globalization of Research Efforts and Develop Globalization of Research Efforts and Common Protocols with Multidisciplinary Research Common Protocols with Multidisciplinary Research TeamsTeams

Continue Efforts for Harmonization of Research Data Continue Efforts for Harmonization of Research Data for Regulatory Purposesfor Regulatory Purposes

Establish Better Definitions of Patient Responders Establish Better Definitions of Patient Responders with Development of Appropriate Biomarkers and with Development of Appropriate Biomarkers and Surrogate Endpoints for Safety and EfficacySurrogate Endpoints for Safety and Efficacy

Expand Global Linkages of Patient Advocacy Group Expand Global Linkages of Patient Advocacy Group Networks Networks

Develop Inclusive WebDevelop Inclusive Web--Based Inventory of Global Based Inventory of Global Rare Diseases Research/Intervention Activities and Rare Diseases Research/Intervention Activities and Information ResourcesInformation Resources

Office of Rare Diseases (ORD) Office of Rare Diseases (ORD) --Collaborative Clinical Research ProgramsCollaborative Clinical Research Programs

Intramural Research and Training Programs Intramural Research and Training Programs •• Bench to Bedside Research Program with Extramural Bench to Bedside Research Program with Extramural

Research ProgramResearch Program•• Clinical and Biochemical Genetics Training Program Clinical and Biochemical Genetics Training Program

(NHGRI)(NHGRI)

Extramural Research ProgramExtramural Research Program•• Scientific Conferences Scientific Conferences •• Rare Diseases Clinical Research Network (RDCRN)Rare Diseases Clinical Research Network (RDCRN)•• CETT Genetic Testing ProgramCETT Genetic Testing Program

International Congress on Rare Diseases and Orphan Drugs International Congress on Rare Diseases and Orphan Drugs (ICORD 2007 September 14(ICORD 2007 September 14--15, Brussels)15, Brussels)Information Development and Dissemination ActivitiesInformation Development and Dissemination ActivitiesTransTrans--NIH Working Group on Rare Diseases ResearchNIH Working Group on Rare Diseases ResearchInventory of BioInventory of Bio--specimen Collection, Storage, and specimen Collection, Storage, and Distribution Systems (RAND Corporation) Distribution Systems (RAND Corporation) OTT/ORD Technology Transfer ActivitiesOTT/ORD Technology Transfer Activities

Information Development, Dissemination, Information Development, Dissemination, and Education Activitiesand Education Activities

•• National Library of Medicine Gateway National Library of Medicine Gateway http://gateway.nlm.nih.gov/gw/Cmdhttp://gateway.nlm.nih.gov/gw/Cmd

•• NORD, Genetic Alliance, DIRLINE > 1200 PAGNORD, Genetic Alliance, DIRLINE > 1200 PAG•• Clinical Trials.govClinical Trials.gov

5,429 Studies Recruiting for 875 Rare Diseases 5,429 Studies Recruiting for 875 Rare Diseases (11,676 Total for 1,024 Rare Diseases)(11,676 Total for 1,024 Rare Diseases)

•• Pub Med/MEDLINE Pub Med/MEDLINE –– 4800 Journals from 70 Countries, 4800 Journals from 70 Countries, 750 Million Searches/year750 Million Searches/year

•• Gene Tests (1294 Diseases) (Euro Gen Test Links))Gene Tests (1294 Diseases) (Euro Gen Test Links))1134 Clinics 1134 Clinics -- 1000 Diseases Clinical Tests1000 Diseases Clinical Tests606 Laboratories 606 Laboratories -- 294 Diseases Research Only 294 Diseases Research Only LaboratoriesLaboratories

•• Seminars for PAG LeadershipSeminars for PAG Leadership•• National Coalition for Health Professional Education in National Coalition for Health Professional Education in

Genetics (NCHPEG)Genetics (NCHPEG)

Technology Transfer ActivitiesTechnology Transfer Activities--OTT/ORDOTT/ORD

Office of Technology Transfer (Neglected Office of Technology Transfer (Neglected Diseases, Rare Diseases) Available Diseases, Rare Diseases) Available Technology from Government ( >500 Technology from Government ( >500 technologies) and Not for Profit technologies) and Not for Profit Organizations Organizations -- NotNot--forfor--Profit Academic Profit Academic Research Centers and Others Research Centers and Others Web site: Web site: http://www.ott.nih.gov/licensing_royaltieshttp://www.ott.nih.gov/licensing_royalties/raredisease_ovrvw.asp/raredisease_ovrvw.aspPress release: Press release: http://www.nih.gov/news/pr/dec2006/ordhttp://www.nih.gov/news/pr/dec2006/ord--11.htm11.htm

Human Biospecimen CollectionsHuman Biospecimen Collections> 307 million specimens stored in the United > 307 million specimens stored in the United StatesStates•• Accumulating at a rate of > 20 million per Accumulating at a rate of > 20 million per

yearyear

> 30 million specimens have been collected > 30 million specimens have been collected specifically for research purposes:specifically for research purposes:•• Stored at >300 bioStored at >300 bio--repositories in the repositories in the

United StatesUnited States> 250 million specimens originally collected > 250 million specimens originally collected for diagnostic or therapeutic reasons for diagnostic or therapeutic reasons •• Stored in pathology labsStored in pathology labs

The Genetic and Rare Diseases The Genetic and Rare Diseases Information Center (NHGRI/ORD)Information Center (NHGRI/ORD)

>18,000 Inquiries (2002 >18,000 Inquiries (2002 –– 2007) 2007)

> 4,640 Rare Diseases or Conditions> 4,640 Rare Diseases or Conditions

> 6,740 Related Terms and Links> 6,740 Related Terms and Links

TollToll--free 1free 1--888888--205205--3223 (USA)3223 (USA)

International Access Number: 301International Access Number: 301--519519--31943194

Fax: 240Fax: 240--632632--91649164

EE--mail: mail: GARDinfo@nih.govGARDinfo@nih.gov

ORD WebsiteORD Websitehttp://rarediseases.info.nih.gov/http://rarediseases.info.nih.gov/

Rare Diseases Information Rare Diseases Information –– Pub Med, NLM GatewayPub Med, NLM Gateway

Research and Clinical Trials Research and Clinical Trials -- CRISP, CRISP, ClinicalTrials.govClinicalTrials.gov

Patient Support Groups Patient Support Groups –– DIRLINE, NORD, Genetic DIRLINE, NORD, Genetic Alliance, > 1200 Patient Advocacy Groups, Alliance, > 1200 Patient Advocacy Groups,

Patient Travel & LodgingPatient Travel & Lodging

Genetics Information Genetics Information –– Gene Tests, OMIM, NCHPEGGene Tests, OMIM, NCHPEG

Research ResourcesResearch Resources

Scientific Workshops, Archived ReportsScientific Workshops, Archived Reports

Website TrendsWebsite Trends

Office of Rare Diseases Office of Rare Diseases -- StaffStaffMs. Mary DemoryMs. Mary DemoryMs. Marita Eddy (Angel Flight)Ms. Marita Eddy (Angel Flight)Dr. John Ferguson (Consultant)Dr. John Ferguson (Consultant)Dr. Stephen C. GroftDr. Stephen C. GroftDr. Rashmi GopalDr. Rashmi Gopal--SrivastavaSrivastavaMr. Christopher GriffinMr. Christopher GriffinMs. Henrietta HyattMs. Henrietta Hyatt--KnorrKnorrMs. Sharon MacauleyMs. Sharon MacauleyMs. 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)

Office of Rare DiseasesOffice of Rare DiseasesNational Institutes of HealthNational Institutes of Health

6100 Executive Boulevard 6100 Executive Boulevard

Room 3BRoom 3B--01, MSC 01, MSC -- 75187518

Bethesda, MD 20892Bethesda, MD 20892--75187518

Voice: 301Voice: 301--402402--43364336

Fax: 301Fax: 301--480480--96559655

EE--mail: mail: ORD@nih.govORD@nih.gov

Website: Website: http://rarediseases.info.nih.gov/http://rarediseases.info.nih.gov/