Gene Therapy Gets Orphan Drug Status for Gaucher Disease

An investigational gene therapy has been granted Orphan Drug designation from the Food and Drug Administration (FDA) for the treatment of Gaucher disease.

Gaucher disease, a lysosomal storage disorder, is caused by mutations in the glucosylceramidase beta gene leading to a deficiency in the enzyme beta-glucocerebrosidase. AVR-RD-02 consists of a single dose of a patient’s own hematopoietic stem cells that are genetically modified to express functional glucocerebrosidase. Treatment with this gene therapy is expected to reduce levels of accumulated substances (glucosylceramide and glucosylsphingosine) which cause the symptoms of Gaucher disease.

The Company is currently recruiting patients for a phase 1/2 clinical trial in which the safety and efficacy of AVR-RD-02 will be investigated in patients with Type 1 Gaucher disease.

“Under the existing standard of care, patients with Gaucher disease are bound to a lifelong infusion schedule of enzyme replacement therapies, and still experience painful and progressive symptoms such as debilitating musculoskeletal pain and fatigue,” said Birgitte Volck, MD, PhD, President of Research and Development at Avrobio. “Orphan drug designation recognizes the unmet need of populations with rare diseases like Gaucher where Avrobio strives to transform lives by addressing the underlying cause of the disease with a single dose of gene therapy.”

For more information visit avrobio.com.