February 2, 2018


Pompe Gene Therapy Advances to Clinical Trials

[Orginially posted on National Center for Advancing Translational Sciences]

NCATS Therapeutics for Rare and Neglected Diseases (TRND) and Duke University scientists, through the Duke Clinical and Translational Science Institute (CTSI), have helped advance a gene therapy for Pompe disease into clinical testing for the first time.

Patients with this rare, often deadly muscle disorder have a faulty gene that does not make enough of an enzyme, acid alpha-glucosidase (GAA), needed to break down glycogen — sugar stores — in the body. Glycogen buildup in muscle cells results in abnormal development; if left untreated, Pompe disease can lead to respiratory problems, heart failure, and death. This therapy uses a modified virus to deliver a healthy gene to a patient’s liver, which then acts like a GAA factory, churning out the missing enzyme into the bloodstream and to muscle cells.

“We completed experiments demonstrating the advantages of gene therapy for Pompe disease in mouse models and had convincing evidence for its use in patients,” said principal investigator Dwight Koeberl, M.D., Ph.D., a medical geneticist, and professor of pediatrics at Duke University. “A collaboration with NCATS, through its TRND program, helped overcome therapy development obstacles — including manufacturing a virus supply needed to deliver the healthy gene and navigating the complex regulatory development processes — to make clinical testing possible.”

Koeberl and Duke University School of Medicine scientists will begin a clinical trial in fall 2018 funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), with support from NCATS, to determine the safety of the therapy in 20 Pompe disease patients.

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