Growth and Development Study of Alglucosidase Alfa

Summary

Pompe disease (also known as glycogen storage disease Type II) is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid α glucosidase (GAA), an enzyme that degrades lysosomal glycogen. As opposed to the exclusively cytoplasmic accumulation of glycogen that occurs in other glycogen storage disorders, Pompe disease is characterized by organelle bound (lysosomal) and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. The overall objective of this study was to evaluate the long-term growth and development of participants with infantile-onset Pompe disease with alglucosidase alfa before 1 year of age. Participants were to be followed for a 10-year period.

Timeline

Start

2008-08-26

Primary completion

2021-11-23

Completion

2021-11-23

Drugs

Indications