Rare diseases and conditions as defined by the Orphan Drug Act (1983) affect less than 200,000 people in the United States. Most of these disease and conditions currently have no FDA-approved treatment. However, with recent scientific developments and FDA’s commitment to help foster the development of new and innovative medical products to treat rare diseases that were previously considered incurable, there is hope that someday FDA-approved therapies will be available to treat the many rare diseases that currently have no cure.
The Center for Biologics Evaluation and Research (CBER) has a longstanding history of regulating and advancing development of biological products for use in rare diseases and conditions. In addition to regulatory oversight of clinical studies, CBER provides proactive scientific and regulatory advice to medical researchers and manufacturers of complex biological products throughout the development process. In the past, most biological products regulated by CBER and intended or approved for use in rare diseases were derived from plasma and used to treat and manage rare blood disorders, immune deficiencies, and various toxicities. Today, CBER continues to regulate and advance the development of these biologics for rare diseases, as well as other new and innovative biological products, such as cell and gene therapy products, all for an ever-expanding array of rare disease indications.
New FDA Grant Funding Opportunity for Rare Disease Research
Learn More About CBER’s Rare Disease Program
CBER’s Rare Disease Program encompasses efforts across the Center that are dedicated to advancing the development and timely approval of safe and effective biologics to improve the lives of children and adults living with rare diseases.
These efforts include:
- Facilitating consideration of the patient perspective in regulatory decision making;
- Ensuring that the Center’s review offices consider flexible and feasible regulatory approaches in review;
- Contributing to the development and implementation of relevant regulatory policy and procedures;
- Collaborating with rare disease colleagues across FDA and other Federal agencies, international regulatory authorities, and outside organizations in cross-cutting activities, programs and initiatives;
- Strengthening awareness of CBER’s regulatory research programs that support development of such biological products;
- Identifying and participating in relevant training for CBER staff; and
- Engaging in relevant internal and external stakeholder outreach activities.
CBER Rare Disease Program Highlights
- The Rare Disease Coordinating Committee (RDCC) serves as an internal information-sharing forum for rare disease-related policy, activities, and events that address the program’s objectives. The RDCC is a core team of multi-disciplinary staff representing CBER’s offices.
- CBER review offices consider flexible approaches while ensuring that statutory standards are met in the review of submissions for rare diseases to facilitate the development and availability of safe and effective products to address unmet needs.
- CBER reviewers routinely engage with experts across the Agency in the collaborative review of submissions for products for rare diseases and by participating in work groups focused on specific disease areas such as neurodegenerative diseases and diseases caused by inborn errors of metabolism.
- CBER provides training and other opportunities for review staff to stay current with medical and scientific advances, regulatory requirements, guidance and relevant programs to further advance development of products for rare diseases.
- CBER engages with rare disease stakeholders, such as patients and caregivers, industry, and researchers in various outreach activities on an array of issues and topics. CBER leadership and staff frequently speak at rare disease-related conferences, patient-focused drug development meetings and other public events held by external stakeholders. They also present posters and author publications in professional journals about their research at CBER and other efforts by the Center that support development of biologics for rare diseases.
- CBER holds rare disease-related public events for stakeholders on timely topics and sometimes in collaboration with one or more stakeholders.
- CBER engages with and listens to rare disease patients and caregivers for their perspectives to help advance patient-focused medical product development through CBER’s Patient Engagement Program.
- CBER works collaboratively with international regulatory authorities and organizations to discuss and exchange scientific and regulatory information related to rare diseases.
- The Prescription Drug User Fee Act (PDUFA), originally enacted by Congress in 1992, furthers FDA’s efforts to advance development of drugs for rare diseases through specific user fee commitments contained in PDUFA reauthorizations as summarized below.
- Under PDUFA V, enacted as part of the Food and Drug Administration Safety and Innovation Act (FDASIA) of 2012, FDA committed to activities to advance development of drugs and biologics for rare diseases. These activities included establishment of CBER’s Rare Disease Liaison position and joint development of training for review staff with the Center for Drug Evaluation and Research (CDER).
- Under PDUFA VI, enacted as part of the Food and Drug Administration Reauthorization Act (FDARA) of 2017, FDA’s rare disease commitments included ensuring consideration of flexible and feasible approaches in review, continued development and implementation of reviewer training, and engagement in stakeholder outreach, all of which are ongoing CBER Rare Disease Program activities.
- Under PDUFA VII, included as part of the FDA User Fee Reauthorization Act of 2022, and as authorized under the Food and Drug Omnibus Reform Act of 2022 (FDORA), FDA has established a Rare Disease Endpoint Advancement (RDEA) Pilot Program, a joint CBER and CDER program to support novel endpoint efficacy development for drugs and biologics that treat rare diseases.
CBER Orphan Approvals
CBER's new BLA approvals for novel biologics with orphan drug designation are provided below by year of approval starting with calendar year 2022.
Collaboration Across FDA and Beyond
Collaboration is a hallmark of the CBER Rare Disease Program. CBER staff collaborate with rare disease partners across FDA, such as in developing and providing rare disease-related training for review staff; developing and participating in outreach activities; and developing policy such as rare disease related guidance. CBER also collaborates with external stakeholders and engages in public-private partnerships and consortia on efforts that help advance development of medical products for rare diseases.
- Office of Orphan Products Development
- Center for Drug Evaluation (CDER) Rare Diseases Team
- Patient Affairs Staff
- Center for Devices and Radiologic Health (CDRH) - Patient Science and Engagement Program
- Office of Pediatric Therapeutics
- Pediatric Medical Devices (CDRH)
- Division of Pediatric and Maternal Health (CDER)
- Oncology Center of Excellence
- Office of Minority Health and Health Equity
- Bespoke Gene Therapy Consortium (BGTC) Critical Path for Rare Neurodegenerative Diseases (CP-RND)
- Critical Path for alpha-1 antitrypsin deficiency (CPA-1)
- Clinical Trials Transformation Initiative (CTTI)
- National Organization for Rare Disorders (NORD)
- The International Rare Diseases Research Consortium (IRDiRC)
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