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Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare Diseases Research

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Page 1: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

Office of Rare Diseases Research Update

Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation

Director, Office of Rare Diseases Research

Page 2: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

2

> 6,000 rare diseases

Many undiagnosed

< 500 have any treatment

Page 3: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

How can we all make a difference for rare diseases?

3

Smart use of data

Creating a research

continuum

Partnering for success

Engaging the next

generation of researchers

Page 4: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

How can we accelerate the path from discovery to health benefit?

4

Integrating care and research

Patient-reported outcomes

Research

Integrating data from multiple sources

Harmonization Collaboration

Clinic

Page 5: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

How can we make sure our data count?

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Registry

Natural History Study

Biomarkers

Trials

Post-approval

For rare diseases: Continuity of data Data standards Keep “end-user” in mind

Photo credit: Michael and Rachel Harris

Page 6: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

Partnering for Success

6

Patient Groups

Academics

Governmental Organizations

Industry

Examples include: • ERARE and NCATS • ECRIN • Japan

Page 7: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

NCATS Genetic and Rare Diseases Information Center (GARD)

https://rarediseases.info.nih.gov

Online resource with:

• Up-to-date, reliable and easy-to-understand information on rare or genetic diseases

• In English or Spanish • For people with rare or

genetic diseases, their families, friends, care providers and wider communities

• Contact information for telephone and email queries

https://rarediseases.info.nih.gov/
Page 8: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

NIH/NCATS Rare Diseases Registry Program

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• Common Data Elements (CDEs) for collecting data

• Informed consent templates

• Privacy Protecting Record Linkage (PPRL) or Global Unique Identifier (GUID)

• Map patient data to GRDR CDEs & national standards

• Information and tools

Page 9: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

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Page 10: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

ORDR/NCATS (NCI, NHLBI, NIAID, NIAMS, NICHD, NIDCR, NIDDK, NIMH, NINDS, ODS)

The Data Management and Coordinating Center

Coalition of Patient Advocacy Groups

(CPAG) Dystonia Coalition

Brain Vascular Malformation Consortium

Nephrotic Syndrome Study Network

Porphyria Rare Disease Clinical Research Consortium

The Frontotemporal Lobar Degeneration Clinical Research Consortium

Primary Immune Deficiency Treatment Consortium

Lysosomal Disease Network

Autonomic Disorders Consortium

Inherited Neuropathies Consortium

Rare Kidney Stone Consortium

Urea Cycle Disorders Consortium

Vasculitis Clinical Research Consortium

Chronic Graft Versus Host Disease

Rett, MECP2 Duplications and Rett-Related

Disorders Consortium

Clinical Research in ALS & Related Disorders for Therapeutic Development

Sterol and Isoprenoid Diseases Consortium

North America Mitochondrial Diseases Consortium

Developmental Synaptopathies Associated with TSC, PTEN

And SHANK3 Mutations

Rare Lung Diseases Consortium

Consortium of Eosinophilic Gastrointestinal Disease Researchers

Brittle Bone Disorders Consortium

Genetic Disorders of Mucociliary Clearance

• Collaborative Clinical Research

• Centralized Data Coordination and

Technology Development

• Public Resources and Education

• Training

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG

PAG PAG PAG

PAG

Page 11: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

About the RDCRN Program

• Collectively, the RDCRN is studying 200 rare diseases in natural history and clinical trials at 418 active clinical sites located in the US and in 24 countries.

• There are more than 90 active protocols.

• 41,519 patients have enrolled in clinical studies.

• There have been 265 trainees.

• There are 3,545 collaborative consortium members.

• There are 144 PAGs as research partners, collectively formed a Coalition (RDCRN-CPAG).

http://rarediseasesnetwork.epi.usf.edu/

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http://rarediseasesnetwork.epi.usf.edu/
Page 12: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

NCATS TOOLKIT PROJECT

Page 13: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

Rare Diseases Toolkit

13

Why? • Patient involvement and community engagement are vital throughout the translational research process • A wealth of educational and informational tools have already been developed by and for the rare disease community

Academia Disease foundations Government agencies Industry

•But existing resources are dispersed and difficult to discover, especially for newcomers

Page 14: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

What will the Toolkit project do for the rare diseases community?

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• Collaboratively create a well-designed source for online educational and

informational research resources and tools. • Provide a single online portal with resources that patient groups can readily

access along with context. • Improve coordination rather than re-create existing resources. • Facilitate opportunities to bring groups together, identify gaps in online

resources, and disseminate information to patient groups. • Promote continuity across the lifecycle of the drug development process.

Pre-clinical Trial readiness

Trials Post-approval

Page 15: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

How we plan to develop the Toolkit

• Identify gaps & opportunities

• Organize tools based on exemplary

use cases

• Educate & inform rare disease community

• Develop programs that assist with use-case

based strategies for patient groups at

different stages

Survey landscape of

available tools

Ascertain needs of

patient groups

Develop & Demonstrate

Sept. 20, 2016 workshop

Disseminate starting summer 2017, via larger meeting(s)

& webinars

• Planning group driven by patient group representatives • Inclusive*, transparent, collaborative • Focus on tools that are useful for research, easily accessible

and practical

* Tools are suggested for inclusion by the patient community. While we cannot capture everything, the initiative will be evolving and we invite comment and feedback.

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Page 16: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

FDA Approvals for Rare Diseases Recently approved new molecular entities:

2015 n = 45 2016 n = 22 45% had a rare disease indication

RD

In addition to rare cancer indications, there are several examples of first-ever treatments for rare genetic diseases, e.g., LAL deficiency, hypophosphatasia, primary bile acid synthesis disorders, CF most common mutation (F508del), hereditary orotic aciduria, SMA, DMD.

Recently approved new Biological License Application (BLA) approvals:

2015 and 2016: n = 13 each. Examples include blood clotting disorders, primary humoral immunodeficiency, snake bite, and anthrax.

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Page 17: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

Take-home Messages

17

Smart use of data

Creating a research

continuum

Partnering for success

Engaging the next

generation of researchers

Page 18: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

ORDR staff • Dr. Petra Kaufmann, [email protected] Director, Office of Rare Diseases Research and Division of Clinical Innovation

• Dr. Anne Pariser [email protected] Deputy Director of the Office of Rare Diseases Research • Dr. David Eckstein, [email protected] Senior Health Science Administrator

• Dr. Rashmi Gopal-Srivastava, [email protected] Director of Extramural Research Program

• Mr. Chris Griffin, [email protected] Program Analyst

• Ms. Henrietta Hyatt-Knorr, [email protected] Senior Program and Policy Analyst

• Ms. Susan Orr, [email protected] Program Assistant

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mailto:[email protected]
mailto:[email protected]
mailto:[email protected]
mailto:[email protected]
mailto:[email protected]
mailto:[email protected]
mailto:[email protected]
Page 19: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

Connect With NCATS: ncats.nih.gov/connect

Website: ncats.nih.gov Facebook: facebook.com/ncats.nih.gov Twitter: twitter.com/ncats_nih_gov YouTube: youtube.com/user/ncatsmedia E-Newsletter: https://ncats.nih.gov/enews Announce Listserv: http://bit.ly/1sdOI5w

Page 20: Office of Rare Diseases Research Update - IRDiRC...Office of Rare Diseases Research Update Petra Kaufmann, MD, MSc Director, Division of Clinical Innovation Director, Office of Rare

Thank you & Time for Questions


Pioneer in Rare Diseases

Universal Immunization Against Rare Diseases

th Rare Diseases and Orphan Drugs...Rare Diseases in Blood Stream Talks On: Rare Musculoskeletal Diseases Leukemia Orthodontics and dentofacial orthopedics Sickle cell anemia Challenges

Highlights of the Office of Rare Diseases Research Activities

The UK Strategy for Rare Diseases · PDF fileTo develop the UK Strategy for Rare Diseases, the Rare Diseases Stakeholder Forum was established. ... diseases plan or strategy by the

Background Paper 6.19 Rare Diseases

Investigating rare diseases with Agilent NGS solutions rare diseases with Agilent NGS solutions ... Rare diseases affect 350 million people worldwide ... digest food • Median survival

RARE DISEASES, MAJOR INFLUENCE

CONTACT INFORMATION - Office of Rare Diseases - National

Treatment of Rare Metabolic Diseases

Targeted Therapies for Serious Rare and Ultra-Rare Diseases

Expensive Drugs for Rare Diseases in Nova Scotia · 2019. 6. 15. · reimbursement of drugs for rare diseases. Pharmaceuticals that treat rare diseases, also known as orphan drugs,

Rare Metabolic Bone Diseases formatted

Evaluating and Diagnosing Rare Diseases

Rare diseases, rare lives

Precision Medicine in Rare Diseases

Rare Diseases and FDA: Perspectives from the Office of

WHAT IS A RARE DISEASE? - EURORDIS - The Voice of Rare ... · WHAT IS A RARE DISEASE? CHARACTERISTICS OF RARE DISEASES • Rare diseases are often chronic, progressive,degenerative,

Apps for rare & neglected diseases

Social Media&Rare Diseases

Gene Therapies for Rare Diseases - FDA Law Blog€¦ · Gene Therapies for Rare Diseases September 13, 2018 Rare Disease Scientific Workshop. Everylife Foundation for Rare Diseases

The Undiagnosed Diseases Program poster.pdf · y Diagnosis. Frontiers in Rare Disease Research Office of Rare Diseases Research National Institutes ai Health . Created Date: 8/11/2009

Rare lung diseases I – Lymphangioleiomyomatosis

Rare Diseases Clinical Research Network

Operational Guidelines for Rare Diseases

Office of Rare Diseases Update - National Center for ... · • Stimulating partnerships for rare diseases • Registries and natural history studies that are trial and regulatory-ready

RARE DISEASES SUMMER S 2011 · National Association “GENETIKA” (Russia) ... E-RARE strategy paper for rare ... Eastern Europe Rare Diseases Summer School was

rare Mendelian diseases versus common multi-factorial diseases

RARE DISEASES IN NUMBERS - Choose yourec.europa.eu/health/ph_threats/non_com/docs/rdnumbers.pdf · RARE DISEASES IN NUMBERS ... - The most common rare diseases according ... Niemann-Pick

European Joint Programme on Rare Diseases (EJP RD) Rare … · 2020-04-01 · European Joint Programme on Rare Diseases (EJP RD) Rare Diseases Research (RDR) Challenges: Fostering

Issues in rare diseases - -

NATIONAL POLICY FOR TREATMENT OF RARE DISEASES Diseases Policy... · (7,8). Rare diseases include genetic diseases, rare cancers, infectious tropic diseases and degenerative diseases

Rare Diseases Clinical Research Consortia (RDCRC) for ...Pre-Application meeting: Rare Diseases Clinical Research Consortia (RDCRC) for Rare Diseases Clinical Research Network: RASHMI

RARE DISEASES IN NUMBERS - European Commissionec.europa.eu/health/archive/ph_threats/non_com/docs/rdnumbers.pdf · RARE DISEASES IN NUMBERS ... - The most common rare diseases according

Chapter 18 Rare Lung Diseases