Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Status:
Completed
Trial end date:
2015-12-01
Target enrollment:
Participant gender:
Summary
Pompe disease is an inherited condition of acid alpha-glucosidase (GAA) deficiency resulting
in lysosomal accumulation of glycogen in all tissues. Glycogen accumulation leads to muscle
dysfunction and profound muscle weakness. A wide spectrum of disease is characteristic and
the most severe patients have cardiorespiratory failure, often fatal in the first two years
of life. Researchers have developed a way to introduce the normal GAA gene into muscle cells
with the expectation that the GAA protein will be produced at levels sufficient to reduce
glycogen accumulation. This study will evaluate the safety of the experimental gene transfer
procedure in individuals with GAA deficiency. The study will also determine what dose may be
required to achieve improvement in measures of respiratory function.