FORTIS: AAV8-Delivered Gene Therapy in Late Onsent Pompe Disease
Research type
Research Study
Full title
FORTIS: A Phase 1/2, Open-Label, Ascending-Dose Clinical Study to Evaluate the Safety and Preliminary Efficacy of AT845, an AAV8-Delivered Gene Transfer Therapy in Patients with Late Onset Pompe Disease
IRAS ID
281708
Contact name
Jorge Diaz Manera
Contact email
Sponsor organisation
Audentes Therapeutics, Inc.
Eudract number
2019-003595-38
Clinicaltrials.gov Identifier
Duration of Study in the UK
6 years, 5 months, 1 days
Research summary
This study aims to assess the safety and efficacy of a treatment for Pompe Disease, a neuromuscular disease that results from various mutations to the GAA gene. This gene codes for an enzyme that breaks down glycogen in cells to glucose. The dysfunction in GAA leads to the accumulation of glycogen in skeletal muscle and motor neurons, resulting in muscle weakness and respiratory problems. These issues will eventually decline towards confinement to a wheelchair, and respiratory failure that can cause early death. This study will focus specifically on Late Onset Pompe Disease (LOPD). The only marketed treatment for Pompe Disease at present is an intravenous enzyme replacement therapy; this does have positive effects on walking distance and respiratory function, however, up to a third of adults with Pompe Disease will still experience a decline in motor function, respiratory function and quality of life.
REC name
South Central - Oxford A Research Ethics Committee
REC reference
20/SC/0288
Date of REC Opinion
20 Nov 2020
REC opinion
Further Information Favourable Opinion