Current Research

Late Onset Treatment Study (LOTS)

A clinical trial is currently underway to further study enzyme replacement in late-onset Pompe patients. The overall objective is to evaluate the safety, efficacy, and pharmacokinetics (PK) of enzyme replacement therapy in patients with late-onset Pompe disease as compared to placebo.

For more information on clinical trials investigating ERT, please visit:

ClinicalTrials.gov

Genzyme Clinical Trials

Gene Therapy

Gene therapy is in the early stages of preclinical investigation and takes a genetic approach to correcting Pompe disease. It aims to circumvent the inborn genetic mutation at the root of Pompe disease by introducing a working copy of the GAA gene into the tissues, in most cases via a modified virus. Gene therapy has been studied using both ex vivo and in vivo approaches. Gene therapy is still in its early stages, and testing has not yet begun in humans.

Bone Marrow Transplantation

Previous attempts at bone marrow transplantation for Pompe disease have not met with success.1 There is some data to suggest that next-generation techniques might be more effective, however.2

Further studies will likely be needed to determine whether bone marrow transplantation may be beneficial. Until that time, it appears to be less effective than the other approaches under investigation.

References

1. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-Glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.

2. Chen, Yuan-Tsong and Andrea Amalfitano. Towards a molecular therapy for glycogen storage disease type II (Pompe's disease). Mol Med Today 2000 Jun;6(6):245-51.