Rare Disease Day 2025: Pharmaceutical Treatments Advancing in the US, EU

Rare Disease Day, which is recognized on the final day of February each year—hence, February 29 in leap years, the rarest date on the calendar—shines a light not only on the 6000 or more diseases that affect some 300 million people around the world, but also the medicines and therapies in development to help those impacted (1).

On Feb. 28, 2025, the European Medicines Agency gave a positive opinion to Vyjuvek (beremagene geperpavec), a topical gene therapy for the ultra-rare genetic skin-blistering condition, dystrophic epidermolysis, which is caused by mutations in the collagen type VII alpha 1 chain (COL7A1) gene (2).

Earlier in February, FDA granted breakthrough therapy designation to radiprodil, GRIN Therapeutics’ investigational, potent negative allosteric modulator selectively targeting the N-methyl-D-aspartate receptor subtype 2B (NR2B or GluN2B), for treatment of seizures associated with GRIN gene-related neurodevelopmental disorder with gain-of-function mutations (3).

Meanwhile, FDA’s Center for Drug Evaluation and Research’s Accelerating Rare Disease Cures program, established in 2022, released its Year Two Annual Report in October 2024, and the Learning and Education to Advance and Empower Rare Disease Drug Developers initiative continues to offer insights to those inquisitive about the design and conduct of rare disease clinical trials, according to an FDA update (4).

According to data from Elsevier’s Scopus, the amount of literature on rare diseases experienced a steady climb starting in 2018 and hit a peak in 2021 after the onset of the COVID-19 pandemic, having leveled off since then but still well above pre-2018 levels (5). The United States has been dominating other countries in terms of rare disease research output, although China is a clear second and outpaces the US in most other disease areas. And since 2020, there has been an explosive increase in inquiries as to how artificial intelligence can be used to shape this research.

Yet despite this increased focus, challenges remain when it comes to ensuring effective clinical trials for rare diseases, as outlined by Phesi in a February 2025 report (6). The five main obstacles listed in that report are: limited patient populations or difficulties with recruitment; geographic dispersion and uncertainty of investigator site selectivity; heterogeneity in disease presentation and progression; a lack of historical clinical trial data in many cases; and regulatory and/or ethical concerns.

Growing uncertainty at the federal level may also become a mounting challenge for the rare disease community. Just this week, the FDA and NIH-sponsored Rare Disease Day 2-day event was postponed (7) with little explanation in the wake of sweeping layoffs within the FDA and NIH. The event "seeks to bring together a broad audience including patients, patient advocates, caregivers, health care providers, researchers, trainees, students, industry representatives, and government staff," according to the event website, but the postponement has left many in the community concerned about the future support for rare diseases.

This adds to growing concern about future federal support for rare disease research and drug development, as the Rare Pediatric Disease Designation and Priority Review Voucher Programs also ended in December 2024 and were not renewed (8), leaving little financial motive for pharmaceutical companies to fund rare disease drug development.

References

1. Lavery, P. Rare Disease Day Celebrated on February 28. BioPharmInternational.com, Feb. 27, 2025.
2. EMA. Meeting Highlights from the Committee for Medicinal Products for Human Use (CHMP) 24–27 February 2025. Press Release. Feb. 28, 2025.
3. GRIN Therapeutics. GRIN Therapeutics Receives FDA Breakthrough Therapy Designation for Radiprodil. Press Release. Feb. 25, 2025.
4. FDA – CDER. FDA Continues to Make Inroads in Rare Disease Drug Development. Press Release. Feb. 28, 2025.
5. Elsevier – Scopus – Rare Disease Research. Received via email correspondence on Feb. 27, 2025.
6. Phesi Rare Disease Showcase, 5 Challenges of Delivering Effective Clinical Trials for Rare Diseases—And Strategies for Overcoming Them; Phesi, February 2025.
7. FDA-NIH Rare Disease Day 2025. FDA.gov. Updated February 25, 2025. https://ncats.nih.gov/news-events/events/rdd
8. Rare Pediatric Disease Designation and Priority Review Voucher Programs. FDA.gov. Update September 27, 2024. https://www.fda.gov/industry/medical-products-rare-diseases-and-conditions/rare-pediatric-disease-designation-and-priority-review-voucher-programs