By: Kerry Jo Lee, M.D., Associate Director for Rare Diseases, Division of Rare Diseases and Medical Devices, Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine, Office of New Drugs, CDER
A rare disease is any disease that affects fewer than 200,000 people in the U.S. There are approximately 25 to 30 million Americans living with a rare disease (about 1 in 10 people), and many rare diseases have few or no available treatments options.
Today, we observe Rare Disease Day 2023. FDA’s goal for this year’s Rare Disease Day is to explore ways to engage and collaborate with patients, patient advocates, and other stakeholders to support the development of safe and effective therapies.
CDER’s ARC Program
CDER is committed to accelerating the development of treatments for patients with rare diseases. In May 2022, CDER launched the Accelerating Rare disease Cures (ARC) Program. The ARC Program seeks to harness CDER’s collective expertise and activities to drive scientific and regulatory innovation for rare diseases. It also builds upon CDER’s existing capabilities to expand its interactions with the rare disease stakeholder community. The vision of the ARC Program is speeding and increasing the development of effective and safe treatment options to address the unmet needs of patients with rare diseases.
In its first year, the ARC Program has focused on strengthening partnerships with patients, advocacy groups, industry, and other stakeholders. Moving forward, the ARC Program has multiple efforts underway to support rare disease drug development. The program recently initiated Learning and Education to Advance and Empower Rare Disease Drug Developers (LEADER 3D) to better understand the challenges in bringing rare disease drug products to market. As part of LEADER 3D, CDER is seeking input to help identify knowledge gaps and produce educational materials on fundamental topics important to our stakeholders, such as:
- Nonclinical and clinical pharmacology considerations
- Clinical trial design and interpretation
- Regulatory considerations for rare disease drug development
We are accepting feedback on the development and dissemination of educational materials on rare disease drug development until March 17, 2023. In parallel with the LEADER 3D effort, CDER is working with the National Organization for Rare Disorders to develop an advanced drug development education series for patients and patient groups.
Also, CDER is partnering with the Center for Biologics Evaluation and Research on the Rare Disease Endpoint Advancement (RDEA) Pilot Program. The RDEA Pilot Program will support efficacy endpoint (or clinical outcome) development and the timely approval of drugs and biological products that treat rare diseases, including rare diseases in children. The program is designed for sponsors with an active investigational new drug (IND) application or pre-IND for the rare disease. It is also intended for sponsors who do not yet have an active drug development program but have, or are starting, a natural history study where they intend to examine the proposed endpoint. The pilot program will proceed through September 30, 2027, and sponsors may submit proposals beginning July 1, 2023, through June 30, 2027.
New Drug Approvals for Rare Diseases
Over the past decade or so, we have seen an upward trajectory in the percentage of drugs approved to treat rare conditions or diseases. In 2022, more than half (20 of 37, or 54%) of our novel drug approvals were for patients with rare diseases. A few examples include:
- The first therapy for acid sphingomyelinase deficiency, a rare genetic disease that affects fat metabolism.
- The first treatment for adults with prurigo nodularis, a rare skin disease that causes hard, itchy lumps to form on the skin.
- A new therapy for adults with obstructive hypertrophic cardiomyopathy, a rare heart condition that occurs when the heart muscle thickens and obstructs blood flow from the heart to the rest of the body.
And, only two months into 2023, we have already approved the first enzyme replacement therapy for the treatment of non-neurological effects of alpha-mannosidosis (a rare genetic lysosomal storage disorder).
Critical Path Institute Partnerships
Lastly, CDER is partnering with the Critical Path Institute (C-Path) under the ARC Program on three new projects:
- The Lysosomal Diseases Pre-Consortium seeks to connect FDA, leading academic institutions, pharmaceutical industries, patient groups, and non-government organizations to address unmet drug development needs for patients living with lysosomal diseases (inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies).
- The Critical Path for Rare Neurodegenerative Diseases aims to advance the understanding of neurodegenerative diseases, in addition to fostering the development of treatments for rare neurodegenerative diseases such as amyotrophic lateral sclerosis (or ALS).
- The Alpha-1 Antitrypsin (AATD) Deficiency Pre-Consortium will provide an opportunity for industry, regulatory agencies, academia, and the patient community to contribute to facilitating medical product development for individuals living with AATD (a rare disease causing progressive destruction of lung tissue).
These public-private partnerships connect various rare disease stakeholders, such as advocacy groups, academics, industry, patients, and other partners, with the agency to help identify solutions for challenges in rare disease drug development. For more information about these projects and to find out how to get involved, please email firstname.lastname@example.org.
FDA hosted the virtual Rare Disease Day event yesterday, February 27, 2023. The event underscored FDA’s agency-wide approach to engaging stakeholders and advancing medical product development for rare diseases. Please visit FDA Rare Disease Day 2023 to access a recording of yesterday’s virtual event.
For more information about CDER’s ARC Program and to join the listserv, please visit CDER Rare Disease News.