Innovations in Rare Diseases

Chelsea Peters

Philippe de Kerillis, DO, FACOEP

BACKGROUND

A rare disease, by definition, is a disease that affects fewer than 200,000 people in the United States. There are about 7000 rare diseases that exist; while many of their causes are unknown, they are often caused by changes in a person’s genes or chromosomes. Rare diseases are also often more difficult to diagnose and treat than more common diseases.¹

Collectively, rare diseases affect over 30 million Americans, mostly newborns, infants, and children. Despite their high unmet needs, roughly 95% of rare diseases have no approved treatments, and the lifetime medical costs can be substantial and create financial hardships for families.²

2024 WAS A BIG YEAR FOR RARE DISEASES

Cell and gene therapy research continued to grow, as well as approvals, for genetically-driven rare diseases. The European Medicines Agency (EMA), Europe’s version of the FDA, granted PRIME designation for Ultragenyx’s Angelman syndrome, Sangamo’s Fabry disease, and Spur’s Gaucher disease products. PRIME designation is the equivalent of the FDA’s Breakthrough Therapy Designation. By granting PRIME/Orphan Drug Designation for these gene therapies, it highlights the unmet needs and speeds up the traditionally long process of getting these drugs to market and in the hands of patients quicker.³

A new program developed by the FDA, START (Support for clinical Trials Advancing Rare disease Therapeutics), is a pilot initiative designed to speed up the development of novel drugs and biological products for rare diseases, fostering faster regulatory milestones and getting life-saving therapies to patients sooner.⁴

Additionally, on Rare Disease Day 2024, the White House Rare Disease Forum met and announced a new $48M project that invests in a novel, AI-driven platform to repurpose existing drugs to address rare and other diseases that lack treatment options. Every Cure, a nonprofit company received funding for a three-year, $48M contract from the Advanced Research Projects Agency for Health (ARPA-H). Every Cure’s mission is to unlock the full potential of existing drugs to treat diseases through the development of an AI-powered platform, called ML/AI-enabled Therapeutic Repurposing in eXtended uses (MATRIX). Promising early leads include arginine for sickle cell disease, folinic acid for autism spectrum disorder, and bosutinib for amyotrophic lateral sclerosis (ALS).^3,5

WHAT’S IN THE PIPELINE FOR 2026?

The topic of rare disease took center stage on the third day of this year’s J.P. Morgan Healthcare conference, with some of the leaders in the space outlining their plans for the upcoming year. Industry hype believes 2026 is shaping up to be a pivotal year for rare disease drugmakers, with key approvals, filings, and readouts lined up for this year.⁶

The rare disease pipeline for 2026 is active, focusing on gene therapies (REGENXBIO for Duchenne muscular dystrophy/Hunter's), precision medicines for rare genetic obesity disorders (Rhythm Pharma), new formulations (Acadia's Rett Syndrome oral solution), and expanded uses for existing drugs (Agios' mitapivat for sickle cell/thalassemia), with key regulatory milestones expected for gene therapies and novel treatments, driving innovation from dermatology to neurology.^7-9

CONCLUSION

With continued growth in cell and gene therapy, as well as the advent of new programs and AI-powered platforms, the future is bright.

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Innovations in Rare Diseases

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