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Rare Disease News & Events

CDER’s ARC Program | Center for Drug Evaluation and Research

To facilitate clinical trial protocol review and assessment, FDA has issued an M11 Clinical Electronic Structured Harmonised Protocol guidance that provides the rationale and recommendations for implementing a harmonized digital clinical trial protocol. This guidance also includes a template and technical specification document.

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Current News

CDER ARC’s LEADER 3D Announces New Rare Disease Drug Development Educational Materials

The U.S. Food and Drug Administration’s Center for Drug Evaluation and Research published six additional case studies and a video developed as part of the Accelerating Rare disease Cures (ARC) Program’s Learning and Education to ADvance and Empower Rare Disease Drug Developers (LEADER 3D) initiative . . . 

The video highlights approaches and considerations sponsors should make when conducting dose-finding studies for rare disease drug development programs.

The case studies highlight approaches sponsors successfully used when designing and conducting rare disease drug development programs. The cases include:

  • Mavorixafor (Xolremdi), which demonstrates the use of the win ratio method in a rare disease program to prioritize the components of a composite clinical endpoint based on their relative clinical importance.
  • Lumasiran (Oxlumo), which illustrates the use of natural history and registry data to inform biomarker-based endpoint selection for a rare disease drug program.
  • Belimumab (Benlysta), which demonstrates the use of a Bayesian analysis design to determine the efficacy of a treatment for systemic lupus erythematosus.
  • Chenodiol (Ctexli), which describes the use of a biomarker and natural history data to support repurposing chenodiol for the treatment of cerebrotendinous xanthomatosis.
  • Inebilizumab-cdon (Uplizna), which demonstrates the use of a novel organ-tissue specific flare definition to inform a primary endpoint for the treatment of immunoglobulin G4-related disease.
  • Omaveloxolone (Skyclarys), which demonstrates the use of a natural history study as confirmatory evidence to support substantial evidence of effectiveness for the treatment of Friedreich’s ataxia.

FDA recognizes that aspects of drug development that are feasible for common diseases may not be feasible for rare diseases and that development challenges are often greater with the increasing rarity of the disease. The small population affected by a rare disease presents additional considerations and calls for appropriate flexibility.

The ARC Program launched LEADER 3D to better understand and address the unique challenges in bringing rare disease therapies to market. As part of the initiative, CDER’s Rare Diseases Team facilitated interviews with the rare disease drug development community and reviewed public docket comments to identify educational opportunities across interest areas in rare disease drug development.

These materials (case studies and videos) on the LEADER 3D webpage reflect the needs and priorities heard from our valuable partners in the rare disease drug development community. The kind and quantity of data in each rare disease application will be different based on the unique considerations of each development program and must be assessed on a case-by-case basis.

 

Recent News

FDA's Rare Disease Endpoint Advancement (RDEA) Pilot Program Is Accepting Proposals to Support Novel Endpoint Development for Rare Disease Treatments

RDEA seeks to advance rare disease drug development programs by providing a mechanism for sponsors to collaborate with FDA throughout the efficacy endpoint development process.

Learn more here.

C3TI Updates Its Knowledge Repository, C3TI Compass

CDER Center for Clinical Trial Innovation (C3TI) updated and republished its knowledge repository, C3TI Compass. C3TI Compass connects users to FDA guidance documents, case studies, and resources that support innovative approaches to clinical trial design and conduct. It centralizes completed activities, ongoing efforts, and practical tools and organizes resources by topic area and resource type.

Event Materials | In Case You Missed It

Advancing Novel Surrogate Endpoints for Rare Disease Drug Development – 5/18/2026

The FDA, in collaboration with Triangle Center of Excellence in Regulatory Science and Innovation, convened a Rare Disease Endpoint Advancement Pilot Program workshop, Advancing Novel Surrogate Endpoints for Rare Disease Drug Development. The workshop focused on scientific and regulatory considerations for developing surrogate endpoints for drugs and biological products intended to treat rare diseases, with emphasis on the types of mechanistic, translational, clinical, and methodological evidence that may support their use in regulatory decision-making.

Agenda, recording, and more are available on the Triangle CERSI event site.

Scaling Innovative Clinical Trial Approaches: Challenges, Progress, and Opportunities – 4/14/2026

This hybrid workshop, co-convened by the Duke-Margolis Institute for Health Policy and CDER’s Center for Clinical Trial Innovation, explored progress in clinical trial innovation to improve the efficiency of drug development.

Agenda, recording, and more available on the Duke Margolis event site.

A Message from the ARC Program Team

2025 was an opportunity for the ARC program to reaffirm its purpose and make plans for the future….

The ARC Program team has maintained focus on our three pillars of Scientific and Regulatory Innovation, Engagement and Education, and Operations that continue to guide all our ARC and collaboratively led initiatives. Our Program is the heart of a network of individuals and institutions working together toward improved treatments and cures for rare diseases. These collaborations are a catalyst for innovation.

Select 2025 highlights:

  • 30+ public speaking engagements
  • 57+ workshops, consults, or meetings to facilitate rare disease drug development
  • 45,000 rare disease news subscribers served
  • Maintenance of FDA-TRACK’s dashboard, which can be filtered to highlight rare disease specific cumulative approvals by quarter
  • 40+ rare and orphan diseases represented within Critical Path Institute’s Rare Disease Cures Accelerator data sharing and integration platform

ARC Participation in FDA Celebration of Rare Disease Day

The Rare Diseases Team’s Andrea Bell-Vlasov kicked off Rare Disease Day as the first presenter, discussing the LEADER 3D program….

During her presentation, Dr. Bell-Vlasov provided information on LEADER 3D’s purpose and progress since its inception, including the suite of educational materials available to rare disease drug developers on the LEADER 3D webpage. A public docket for feedback on LEADER 3D materials was also highlighted during the presentation and is available for public input.

CDER Publishes 2025 Novel Drug Approvals Report

CDER released its Advancing Health Through Innovation: New Drug Therapy Approvals 2025 report summarizing the 46 novel drug approvals of the past calendar year.

Seventy percent of drugs (32) were approved in the U.S. before approval in other countries, and exactly half (23) received orphan drug designation. Learn more about CDER’s novel drug approvals for 2025 on this webpage.

Office of Orphan Products Development 2025 Designations and Grants

In FY25, the FDA Office of Orphan Products Development in the Office of the Chief Medical Officer, Office of the Commissioner, received 657 original orphan-drug designation requests and 195 amendments. A total of 450 designations were granted. Search orphan drug designations and approvals on this webpage.

Event Materials | In Case You Missed It

RISE Together: Data Sharing Across the Rare Disease Ecosystem – 3/30/2026

This public workshop, co-convened by the Duke-Margolis Institute for Health Policy and the FDA’s Rare Disease Innovation Hub, was designed for all stakeholders in the rare disease community to explore data sharing as it pertains to informing development and regulatory review for rare disease therapies.

Agenda, recording, and more available on the Duke Margolis event site.

Advancing the Development of Pediatric Therapeutics (ADEPT) 10: Addressing Challenges in Neonatal Product Development – Leveraging Rare Disease Frameworks – 2/5-6/2026

The FDA, in collaboration with the University of Maryland Center of Excellence in Regulatory Science and Innovation convened this public workshop to discuss common challenges in neonatal and rare disease product development and identify opportunities to leverage rare disease product development frameworks in the neonatal product development space.

Agenda, recording, and more available on the FDA event site.

 

Prior Events & Reports

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