Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
Status:
Active, not recruiting
Trial end date:
2022-12-01
Target enrollment:
Participant gender:
Summary
A recombinant AAV vector has been generated to carry the codon-optimized acid
alpha-glucosidase (coGAA) gene expressed from a human desmin enhancer/promoter (DES). The
proposed clinical trial is a within-participant, double-blind, randomized, phase I controlled
study evaluating the toxicology, biodistribution and potential activity of re-administration
of rAAV9-DES-hGAA injected intramuscularly into the TA. Nine participants (18 to 50-years
old) who reside within the United States with Late-Onset Pompe Disease (LOPD) will be
included. The goal of the immune modulation strategy is to ablate B-cells (Rituximab and
Sirolimus) prior to the initial exposure to the study agent in one leg and the subsequent
exposure of the same vector to the contralateral leg after four months. At each study agent
dosing, the contralateral leg will receive excipient. Patients will act as their own
controls. Repeated measures, at baseline and during the following 3 months after each
injection, will assess the safety, biochemical and functional impact of the vector.