AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.

ABSTRACT: There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for their treatment. We present a road map for individualized treatment of an ultra-rare disease by establishing a gene replacement therapy developed for a single patient with hereditary spastic paraplegia type 50 (SPG50). Through a multicenter collaboration, an adeno-associated virus-based gene therapy product carrying the AP4M1 gene was created and successfully administered intrathecally to a 4-year-old patient within 3 years of diagnosis as part of a single-patient phase 1 trial. Primary endpoints were safety and tolerability, and secondary endpoints evaluated efficacy. At 12 months after dosing, the therapy was well tolerated. No serious adver

SUBMITTER: Dowling JJ 

PROVIDER: S-EPMC11271397 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature