Rare Diseases and Orphan Products Rare Diseases and Orphan Products Experiences in the USA and A Global Experiences in the USA and A Global

Perspective of Collaborative Research and Perspective of Collaborative Research and Development ActivitiesDevelopment Activities

Stephen C. Groft, Pharm.D.Stephen C. Groft, Pharm.D.Director, Office of Rare DiseasesDirector, Office of Rare Diseases

National Institutes of HealthNational Institutes of HealthDepartment of Health and Human ServicesDepartment of Health and Human Services

International Conference on Rare Diseases and International Conference on Rare Diseases and Orphan DrugsOrphan Drugs

Stockholm, SwedenStockholm, SwedenFebruary 14-16, 2005February 14-16, 2005

Rare Diseases Act of 2002Rare Diseases Act of 2002

Public Law 107-280 (November 6, 2002)Public Law 107-280 (November 6, 2002)

Recommend Research and Public Education Recommend Research and Public Education Agendas at NIHAgendas at NIH

Promote Coordination and Collaboration of Rare Promote Coordination and Collaboration of Rare Diseases Activities Diseases Activities

Develop Information Center (NHGRI)Develop Information Center (NHGRI)

Office of Rare DiseasesOffice of Rare Diseases

Collaborative Clinical Research Programs Collaborative Clinical Research Programs Intramural Research Program Intramural Research Program Extramural Research Program Extramural Research Program Rare Diseases Clinical Research Network Rare Diseases Clinical Research Network Information Development and Dissemination Information Development and Dissemination ActivitiesActivitiesTrans-NIH Working Group on Rare Diseases Trans-NIH Working Group on Rare Diseases ResearchResearchGenetic TestingGenetic TestingBiospecimen Collection, Storage, and DistributionBiospecimen Collection, Storage, and Distribution

Coordinated Efforts for Successful Coordinated Efforts for Successful Orphan Product Development/Rare Orphan Product Development/Rare

Diseases ResearchDiseases Research

Industry (Domestic and International, Large and Industry (Domestic and International, Large and Small)Small)Academic and Research Community-Academic and Research Community-Multidisciplinary Research EffortsMultidisciplinary Research EffortsMedical Specialty SocietiesMedical Specialty SocietiesPatient Advocacy Groups – The Hub or GluePatient Advocacy Groups – The Hub or GlueFederal GovernmentFederal Government– RegulatoryRegulatory

– ReimbursementReimbursement– ResearchResearch

Intramural Research ProgramIntramural Research ProgramExtramural Research ProgramExtramural Research Program

Rare Disease ConsortiaRare Disease Consortia

• Angelman, Rett, & Prader-Willi Syndromes C. (ARPWSC)

• Bone Marrow Failure Disease C. (BMFDC)• Cholestatic Liver Disease C. (CLiC)• C. Clinical Investigations of Neurological Channelopathies (CINCH)• Genetic Disorders of Mucociliary Clearance C. (GDMCC)• Rare Genetic Steroid Diseases C. (RGSDC)• Rare Lung Diseases C. (RLDC)• Rare Thrombotic Diseases C. (RTDC)• Urea Cycle Disorders C. (UCDC)• Vasculitis Clinical Research C. (VCRC)

http:\\www.rarediseasesnetwork.org

Patients U.S. DHHS, NIHORD, NCRR, NIAMS,

NICHD, NHLBI, NIDDK, NINDS

Data and TechnologyCoordinating Center

MediaLibrary

Public Website

ResearchersDoctors Educators

PatientCommunity

PharmaceuticalCompanies

Site

Site

Site

RDCCenter

Site

Site

Site

RDCCenter

Site

Site

Site

RDCCenter

Registries

CPAG

SupportGroups

Organization of the RDCRN

ContactRegistry

Clinical ResearchData Bank

DSMB SAB

Clinical DataStandardization

Groups

Selected Tasks of Patient Selected Tasks of Patient Advocacy GroupsAdvocacy Groups

Establish Medical and Scientific Advisory Establish Medical and Scientific Advisory BoardsBoards

Support Research and Training ProgramsSupport Research and Training Programs

Provide Ready Access to MediaProvide Ready Access to Media

Serve as Direct Links to Patients and Serve as Direct Links to Patients and PhysiciansPhysicians

Translate Research Results to CommunitiesTranslate Research Results to Communities

Organize Research Based Conferences and Organize Research Based Conferences and Meetings for Patients/Families/Caregivers Meetings for Patients/Families/Caregivers

Promoting Quality Genetic TestingPromoting Quality Genetic Testing

Gaining acceptance of global testing Gaining acceptance of global testing servicesservices

CLIA Certification Standards (USA)CLIA Certification Standards (USA)

Interpretation of results with appropriate Interpretation of results with appropriate patient counselingpatient counseling

Partnership and networks to improve Partnership and networks to improve research translation and data sharing research translation and data sharing

Between and among research and clinical laboratories Between and among research and clinical laboratories

Among research investigators, clinical laboratories, Among research investigators, clinical laboratories, patient groups, clinicians, payerspatient groups, clinicians, payers

Gaining Access to Clinical StudiesGaining Access to Clinical Studies

National Library of Medicine - ClinicalTrials.gov National Library of Medicine - ClinicalTrials.gov Search By Name of Condition or Disease Group, Search By Name of Condition or Disease Group, Treatment, Location, or SponsorTreatment, Location, or SponsorBrowse by Condition, Sponsor, or Recruitment Browse by Condition, Sponsor, or Recruitment StatusStatus12,550 Total Studies (Phase 1, 2, 3, 4)12,550 Total Studies (Phase 1, 2, 3, 4) 4,311 Studies Actively Recruiting4,311 Studies Actively Recruiting 236 Not Yet Recruiting236 Not Yet Recruiting 4,059 No Longer Recruiting4,059 No Longer Recruiting 3,944 Completed Studies3,944 Completed Studies

ClinicalTrials.gov - Sponsors - ClinicalTrials.gov - Sponsors - Actively Recruiting (Total)Actively Recruiting (Total)

Industry - 969 Recruiting (2848)Industry - 969 Recruiting (2848)

University/Organization – 1838 Recruiting University/Organization – 1838 Recruiting (4938)(4938)

Other Federal Agencies – 150 Recruiting Other Federal Agencies – 150 Recruiting (402)(402)

NIH – 2999 Recruiting (8377)NIH – 2999 Recruiting (8377)

Co-SponsorshipCo-Sponsorship

ClinicalTrials.gov – Rare DiseasesClinicalTrials.gov – Rare Diseases

Rare DiseasesRare DiseasesTotal Studies (Including Those No Longer Total Studies (Including Those No Longer Recruiting – Significant to Include)Recruiting – Significant to Include)– 5, 851 Studies5, 851 Studies– 841 Rare Diseases841 Rare Diseases

Active Recruiting Studies Active Recruiting Studies – 2,317 Studies2,317 Studies– 650 Rare Diseases650 Rare Diseases

Challenges and StrategiesChallenges and Strategies

Provide Global Access to Clinical Studies Provide Global Access to Clinical Studies and Clinical Trials and Clinical Trials Develop Globalization of Research Efforts Develop Globalization of Research Efforts and Common Protocols with and Common Protocols with Multidisciplinary Research TeamsMultidisciplinary Research TeamsContinue Efforts for Harmonization of Continue Efforts for Harmonization of Research Data for Regulatory PurposesResearch Data for Regulatory PurposesEstablish 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

Challenges and StrategiesChallenges and Strategies

Utilize Screening Processes of Industry and Utilize Screening Processes of Industry and Government Chemical LibrariesGovernment Chemical LibrariesProduct Development and Manufacturing Product Development and Manufacturing CapabilitiesCapabilitiesIdentify Research and Development Needs, Identify Research and Development Needs, Challenges, and Solutions for … Challenges, and Solutions for … – Academic Research Investigators, Academic Research Investigators, – Pharmaceutical, Biotechnology, and Medical Pharmaceutical, Biotechnology, and Medical

Device IndustriesDevice Industries– Government AgenciesGovernment Agencies– Patient Advocacy GroupsPatient Advocacy Groups

Challenges and StrategiesChallenges and StrategiesExpand Newborn Screening Programs and the Development of Expand Newborn Screening Programs and the Development of Genetic and Diagnostic Tests with Appropriate CounselingGenetic and Diagnostic Tests with Appropriate Counseling

Increase Educational Efforts for the Public and Health Care Increase Educational Efforts for the Public and Health Care Providers’ Communities Providers’ Communities – Diagnostic Criteria Rare Diseases and ConditionsDiagnostic Criteria Rare Diseases and Conditions– Disease Specific and Available TreatmentsDisease Specific and Available Treatments– Standards of Care for Emergency and Critical Care TreatmentsStandards of Care for Emergency and Critical Care Treatments– Basis of Genetics and Inherited Disorders Basis of Genetics and Inherited Disorders

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

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

Challenges and StrategiesChallenges and Strategies

Identify and Expand Worldwide Partnerships and Identify and Expand Worldwide Partnerships and CollaborationsCollaborationsIdentify Economic Impact of Rare DiseasesIdentify Economic Impact of Rare DiseasesExpand Training Programs on Living and Coping Expand Training Programs on Living and Coping with Rare and Genetic Diseases - Gaining with Rare and Genetic Diseases - Gaining Acceptance for DisabilitiesAcceptance for DisabilitiesExplore Across-life Implications Explore Across-life Implications Maximize Access to Rehabilitation Therapies – Maximize Access to Rehabilitation Therapies – Physical, Hearing, Speech, Vocational, Physical, Hearing, Speech, Vocational, Occupational, etc.Occupational, etc.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

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

>10,000 Inquiries (2002 – 2004) >10,000 Inquiries (2002 – 2004)

> 3,500 Rare Diseases or Conditions> 3,500 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: GARDinfo@nih.govGARDinfo@nih.gov

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, ClinicalTrials.govResearch and Clinical Trials - CRISP, ClinicalTrials.gov

Patient Support Groups - CHID Database > 1200 Patient Patient Support Groups - CHID Database > 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 ResourcesScientific Workshops, Archived ReportsScientific Workshops, Archived Reports

Website TrendsWebsite Trends– ~ 75,000 Users per Month~ 75,000 Users per Month

– Average Visit – 17.24 MinutesAverage Visit – 17.24 Minutes

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: ORD@nih.govORD@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 DemoryDr. John Ferguson (Consultant)Dr. John Ferguson (Consultant)Mr. Christopher GriffinMr. Christopher GriffinMs. Henrietta Hyatt-KnorrMs. Henrietta Hyatt-KnorrMs. Sharon MacauleyMs. Sharon MacauleyMs. Geraldine Pollen (Consultant)Ms. Geraldine Pollen (Consultant)Dr. Giovanna SpinellaDr. Giovanna SpinellaDr. William Gahl (Clinical Director, NHGRI)Dr. William Gahl (Clinical Director, NHGRI)Special Thanks to Dr. Elaine Collier, Dr. Jeff Special Thanks to Dr. Elaine Collier, Dr. Jeff Krischer, and Dr. Bruce Trapnell - RDCRNKrischer, and Dr. Bruce Trapnell - RDCRN