Companies in #Rare Genetic Diseases

Global biotechnology company developing and commercializing innovative therapies for rare genetic diseases.

ReCode Therapeutics is a clinical-stage genetic medicines company using its proprietary Selective Organ Targeting (SORT) lipid nanoparticle platform to deliver mRNA and gene correction therapeutics directly to the lungs and other organs beyond the liver. Its lead programs target cystic fibrosis and primary ciliary dyskinesia, rare genetically defined diseases with no existing treatment options.

Ultragenyx Pharmaceutical is a Novato, California-based biopharmaceutical company developing and commercializing therapies for rare and ultra-rare genetic diseases, with four marketed products — Crysvita (burosumab) for X-linked hypophosphatemia, Mepsevii for MPS VII, Dojolvi for long-chain fatty-acid oxidation disorders, and Evkeeza (evinacumab) for homozygous familial hypercholesterolemia. Its late-stage pipeline spans gene therapies and biologics across osteogenesis imperfecta (setrusumab/UX143), Sanfilippo syndrome type A (UX111, AAV9), glycogen storage disease type Ia (DTX401, AAV8), ornithine transcarbamylase deficiency (DTX301, AAV8), and Wilson disease (UX701, AAV9, Phase 2). On September 3, 2026 the company disclosed that its pivotal Phase 3 Aspire study of apazunersen (GTX-102) in Angelman syndrome missed its primary and key secondary efficacy endpoints, triggering a 44% single-day decline, sell-side downgrades, and planned expense reductions.