Rare Daily Staff

The U.S. Food and Drug Administration granted Rare Pediatric Disease designation to Avrobio’s investigational gene therapy for the treatment of cystinosis, a life-threatening disease that causes progressive multi-organ damage, including early, acute kidney disease progressing to end-stage kidney disease.

Cystinosis is a rare, progressive disease that impacts approximately 1,600 patients in the United States, Europe, and Japan and is marked by the accumulation of cystine in cellular organelles known as lysosomes. Untreated cystinosis is fatal at an early age. The current standard of care for cystinosis, a treatment regimen that can require dozens of pills per day, does not prevent overall disease progression and carries side effects, such as breath and body odor and gastrointestinal symptoms, which can impede compliance. More than 90 percent of treated cystinosis patients require a kidney transplant in the second or third decade of life.

Avrobio’s gene therapy, AVR-RD-04, is designed to genetically modify patients’ own hematopoietic stem cells (HSCs) to express the gene encoding cystinosin, the protein that is critically deficient in people living with cystinosis. Preliminary data from the ongoing University of California San Diego phase 1/2 clinical trial suggest that this approach is well tolerated, with no adverse events (AEs) related to the drug product reported to date. All AEs reported were related to myeloablative conditioning, stem cell mobilization, underlying disease or pre-existing conditions. The majority of AEs were mild or moderate and resolved without clinical sequelae. Clinical data to date indicate this investigational approach provides benefits in multiple tissues evaluated, including the eyes, skin, gastrointestinal mucosa, and the neurocognitive system.

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 (NDA) or Biologics License Application (BLA) 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. Recently, Marinus Pharmaceuticals sold its voucher to Novo Nordisk for $110 million.

X