Rare Daily Staff

Cambridge, Massachusetts-based Avrobio, a clinical-stage company developing gene therapies, said it expanded its pipeline of programs to include a gene therapy to treat Pompe disease, a progressive and often fatal neuromuscular disorder.

Pompe disease affects an estimated 1 in 40,000 people worldwide. The inherited disorder is caused by a single-gene defect leading to the absence or partial deficiency of the lysosomal enzyme, acid alpha-glucosidase. The dysfunctional enzyme causes the glycogen to build up in various cells throughout the body. Patients with Pompe disease experience a wide range of clinical symptoms including significant muscle weakness affecting the ability to walk and respiratory insufficiency affecting the ability to breathe.

The aim of Avrobio’s experimental gene therapy is a one-time infusion of a patient’s peripheral blood stem cells that have been extracted and genetically modified. A fully functional copy of the faulty gene is put into the extracted cells and then delivered back into the patient.

Avrobio said that a durable elevation of endogenous enzyme is expected, with the potential to significantly improve patient outcomes and eliminate the need for lifelong biweekly intravenous infusions of enzyme replacement therapy, which it called “burdensome and costly.”

The Pompe disease program is the third experimental gene therapy it is pursuing for a lysosomal storage disorder. The company is in early-stage clinical trials for an experimental therapy for Fabry disease and is in preclinical preparation of a separate program for Gaucher disease. 

September 21, 2017

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