Rare Disease Day 2026: Accelerating Regulatory Innovation for Rare and Ultra-Rare Diseases

Since its creation in 2008, Rare Disease Day is observed every year on February 28^th (or 29 February in leap years – the rarest day of the year). The day provides an opportunity to advocate for rare diseases as a human rights priority at local, national, and international levels, promoting a more inclusive society.

Over 6,000 rare diseases have been identified, and it is estimated that up to 6% of the world population is affected by a rare condition – this is equivalent to one child in every classroom. Rare diseases include a wide range of conditions and symptoms that can vary not only between diseases but also among individuals with the same condition. Most (72%) of rare diseases are genetic, and nearly one in five cancers is classified as rare.

To date, only around 5% of rare diseases have approved treatments, the average diagnostic journey takes 5.6 years, and 30% of affected children die before the age of five. Therefore, Medicine and Regulatory Agencies around the globe are working hard to promote and support the development of new and life changing therapies, targeting rare and ultra rare diseases.

FDA

On Monday 23 February, FDA hosted a virtual public meeting in advance of Rare Disease Day. The goal was to explore ways to engage and collaborate with patients and their communities to support and accelerate the development of medical products for rare diseases. 

• FDA stakeholders from CDER, CBER, CDRH, and the Rare Disease Innovation Hub provided updates for both externally (e.g., Rare Disease Evidence Principles pathway) and internally-facing programs. Key discussion points centered around facilitation of novel cures for ultra rare populations, as well as treatments for patients who may not fit the inclusion/exclusion criteria of a clinical trial.
• Advocacy groups and patients were invited to share their perspectives, with a focus on growing organic outreach, and how they are best able to collaborate with other patients, advocates and physicians, as well as industry and regulatory stakeholders.
• With the presence of Department of Health and Human Services Secretary Robert F. Kenney Jr., FDA Commissioner Dr. Marty Makary, and Acting CDER Director Dr. Tracy Beth Hoeg, the FDA formally released the Draft Guidance entitled “Considerations for the use of the Plausible Mechanism Framework to Develop Individualized Therapies that Target Specific Genetic Conditions with Known Biological Cause” ( Draft Guidance for Industry). This follows a New England Journal of Medicine article describing the same principles, as well as the recent success of the bespoke Crispr-Cas9 human genome editing treatment of “Baby KJ.” Per Dr. Makary, the FDA seeks to best promote these “N of 1” treatments as providing supportive evidence for future applications for licensure, noting that clear efficacy should provide for “common sense” approval.
• The session concluded with roundtable discussions on the development of Artificial Intelligence and Real-World Evidence (RWE), and their prospective uses in rare disease drug development. Particularly, it was noted how AI could extract meaningful insights from small populations, using proteomics (protein signatures on a per-patients basis) as one example. Regarding RWE, speakers discussed how they could supplement data obtained from a prospectively designed interventional trial, as well as noting best practices on how to ensure RWE are fit for purpose.

EMA

The European Medicines Agency (EMA) also marks Rare Disease Day by highlighting its role in accelerating, assessing, and authorizing orphan medicines. The EMA provides incentives, such as fee reductions for marketing authorization, to companies developing medicines for conditions affecting fewer than 5 in 10,000 people.

The EMA supports the global Rare Disease Day campaign, in partnership with the European Organisation for Rare Diseases (EURORDIS), often featuring specialized webinars for developers, researchers, and patients to discuss challenges and innovations in rare disease treatments.

On a more specific level, at the end of last year, the EMA has published a comprehensive report on the EU Repurposing Pilot initiated in 2021 to facilitate repurposing of established medicines. This initiative targeted unmet medical needs, particularly in rare diseases and paediatric populations, by supporting not-for-profit organisations and academic institutions in generating robust evidence to enable regulatory approval for new uses. Of 35 applications received, 6 were selected for EMA Scientific Advice, 5 of which covered a rare disease. Of note, an orphan designation was granted for 2 projects, in parallel to the repurposing pilot. The pilot explored the use of RWE to complement clinical data, and confirmed the need for ongoing multi-stakeholder collaboration, including regulators, industry, academia, patient groups, and payers, to address barriers beyond scientific evidence such as reimbursement and market incentives. This pilot represents a significant step towards facilitating regulatory recognition of new uses for well-established medicines, fostering innovation through collaborative frameworks in the public interest.

MHRA

The MHRA has recently published a policy paper (Rare therapies and UK regulatory considerations), to propose a new comprehensive framework to ensure rare disease therapies are developed, licensed, and delivered in a way that balances patient needs, regulatory robustness, and system sustainability. Through international collaboration, strong patient engagement, and close alignment with the NHS, this initiative aims to make it quicker and easier to get these therapies tested, manufactured and approved.

In developing this new pathway, the MHRA will ensure that safety standards are not weakened; instead, the balance of evidence generation will be adjusted. By combining flexible pre-approval requirements with strengthened post-approval monitoring, the UK wants to provide patients with rare diseases faster access to therapies without compromising safety or scientific integrity.

In Conclusion, Regulatory Agencies are acknowledging that current approval routes for orphan therapies are proving too costly and inefficient, if not virtually unachievable, making it unviable to develop the highly targeted therapies necessary to treat rare and ultra rare diseases. The Agencies are looking for new pathways to improve their continuing support for the development of such therapies, fostering wider discussions with many stakeholders, including patients and their representatives, academics and industry.

Boyds has a long-standing track record of supporting companies and academic groups in the development of medicines for patients with rare diseases. We continue to work closely with regulators around the world to help accelerate the development and approval of these much-needed therapies.

If you are advancing a rare disease treatment, we would welcome the opportunity to discuss how Boyds’ renowned expertise can support your development programme and regulatory strategy. Get in touch here.