NAS/IOM Review of Rare Diseases NAS/IOM Review of Rare Diseases Research and Orphan Products Research and Orphan Products

Development - USADevelopment - USA

Timothy Cote, M.D., MPHTimothy Cote, M.D., MPHDirector, Office of Orphan Products DevelopmentDirector, Office of Orphan Products Development

Food and Drug AdministrationFood and Drug Administration

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

National Institutes of HealthNational Institutes of HealthDepartment of Health and Human Services, USADepartment of Health and Human Services, USA

ICORD 2009ICORD 2009February 23-25, 2009February 23-25, 2009

IOM Review of Rare Diseases IOM Review of Rare Diseases Research and Orphan Products Research and Orphan Products

DevelopmentDevelopment

Conduct an independent assessment of Conduct an independent assessment of the current strategies and incentives for the current strategies and incentives for the development of therapies for rare the development of therapies for rare diseases diseases

Provide recommendations to improve Provide recommendations to improve these strategies and incentives and these strategies and incentives and shorten the timeline for development of shorten the timeline for development of new treatments and cures.new treatments and cures.

NAS/IOM Review of Rare Diseases Research and NAS/IOM Review of Rare Diseases Research and Orphan Products DevelopmentOrphan Products Development

Make recommendations for an integrated Make recommendations for an integrated national rare disease policy on research national rare disease policy on research and development and development

Assess existing strategies to promote Assess existing strategies to promote research discoveries and development of research discoveries and development of orphan products to improve the health of orphan products to improve the health of people with rare diseases. people with rare diseases.

NAS/IOM Review of Rare Diseases Research and NAS/IOM Review of Rare Diseases Research and Orphan Products DevelopmentOrphan Products Development

Examine current public policies relevant to Examine current public policies relevant to product development for rare diseases, product development for rare diseases, including the including the – Orphan Drug Act, Orphan Drug Act, – Humanitarian Use Device Exemption, Humanitarian Use Device Exemption, – Approaches of the National Institutes of Approaches of the National Institutes of

Health and the Food and Drug Administration, Health and the Food and Drug Administration, – Reimbursement policies, and Reimbursement policies, and – Other legislative and regulatory initiatives. Other legislative and regulatory initiatives.

NAS/IOM Review of Rare Diseases Research and NAS/IOM Review of Rare Diseases Research and Orphan Products DevelopmentOrphan Products Development

Describe the epidemiology and societal impact of Describe the epidemiology and societal impact of rare diseases and provide an overview of current rare diseases and provide an overview of current methods for their prevention, diagnosis, and methods for their prevention, diagnosis, and treatment. treatment.

Describe the strengths and limitations of the current Describe the strengths and limitations of the current development pathways for new drugs, medical development pathways for new drugs, medical devices, and biologics for rare diseases (taking into devices, and biologics for rare diseases (taking into account developments in genetic testing) and account developments in genetic testing) and discuss the special challenges that rare diseases discuss the special challenges that rare diseases create for research and product regulation.create for research and product regulation.

NAS/IOM Review of Rare Diseases Research and NAS/IOM Review of Rare Diseases Research and Orphan Products DevelopmentOrphan Products Development

– Enhancing multidisciplinary collaboration Enhancing multidisciplinary collaboration and government-university-industry and government-university-industry partnerships in basic and translational partnerships in basic and translational research;research;

– Expanding public engagement and Expanding public engagement and enhancing the roles of patient enhancing the roles of patient organizations;organizations;

– Facilitating research data and biomaterials Facilitating research data and biomaterials collection and dissemination, including the collection and dissemination, including the use of bio-repositories and registries;use of bio-repositories and registries;

– Strengthening training of investigators;Strengthening training of investigators;

NAS/IOM Review of Rare Diseases Research and NAS/IOM Review of Rare Diseases Research and Orphan Products DevelopmentOrphan Products Development

– Disseminating information to clinicians, Disseminating information to clinicians, patients, and families;patients, and families;

– Review of policies and regulations;Review of policies and regulations;– Encouraging alternative research Encouraging alternative research

financing mechanisms; andfinancing mechanisms; and– Developing research agendas and Developing research agendas and

coordinating resources and development coordinating resources and development efforts throughout the product efforts throughout the product development pathways. development pathways.