FDA Grants Rare Pediatric Disease Designation to Avrobio for Gene Therapy for Gaucher Disease

The U.S. Food and Drug Administration has granted Rare Pediatric Disease designation to Avrobio’s gene therapy to treat Gaucher disease, a rare lysosomal disorder that can lead to multiorgan pathology, clinical morbidity, and early mortality.

Gaucher disease is a rare, inherited lysosomal disorder characterized by the toxic accumulation of glucosylceramide and glucosylsphingosine in macrophages. Macrophages enlarged with these fatty substances are called Gaucher cells and amass primarily in the spleen, liver, and bone marrow. This results in a variety of potential symptoms, including grossly enlarged liver and spleen, bone issues, fatigue, low hemoglobin levels and platelet counts, and an adjusted lifetime relative risk of developing Parkinson’s disease that may be more than 20 times greater than the general population. Even on enzyme replacement therapy, the current standard of care, people with Gaucher disease typically have a shortened life expectancy and may experience debilitating symptoms that significantly reduce their quality of life.

AVR-RD-02, a first-in-class investigational gene therapy that genetically modifies patients’ own hematopoietic stem cells. The company’s Gaucher disease program includes Gaucher disease type 1 and type 3, which collectively impact an estimated 30,000 patients worldwide. The company expects to provide an interim clinical data update for its phase 1/2 Gaucher disease type 1 clinical trial, as well as an outline of the development and regulatory strategy for its Gaucher disease type 3 program, in the fourth quarter of 2022.

AVR-RD-02 has previously received Fast Track status from FDA, orphan drug designation in the U.S. and EU, and ILAP designation from the U.K. MHRA.

FDA’s Rare Pediatric Disease designation and Voucher program is intended to facilitate the development of new drugs and biologics for the prevention and treatment of rare pediatric diseases. Companies that receive approval for a New Drug Application or Biologics License Application for a rare pediatric disease may be eligible to receive a voucher for a priority review of a subsequent marketing application for a different product. The priority review voucher may be used by the company or sold to a third party. Most recently, Marinus Pharmaceuticals sold a voucher to Novo Nordisk for $110 million.