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FDA grants AVR-RD-04 rare pediatric disease designation for cystinosis


AVROBIO’s AVR-RD-04 therapy has been granted rare pediatric disease designation to treat cystinosis in pediatric patients.

The US Food and Drug Administration (FDA) recently granted rare pediatric disease designation to AVR-RD-04, a gene therapy developed by AVROBIO, Inc.

AVR-RD-04 is an investigational therapy for treating cystinosis, preventing outcomes such as progressive multi-organ damage. Without treatment, cystinosis can lead to end-stage kidney disease. About 1600 patients are affected annually in the United States, Japan, and Europe, and the disease is fatal if untreated in childhood.

With AVR-RD-04, patients’ hematopoietic stem cells (HSCs) are modified to increase expression of gene encodingcystinosin, a protein which is dangerously deficient in people with cystinosis. In comparison, current treatments for cystinosis do not halt overall disease progression, and often require taking dozens of pills per day. 

These treatments can also lead to side effects such as gastrointestinal symptoms and breath and body odor. In 90% of patients, a kidney transplant is needed later in life.

A phase ½ trial showed no adverse events (AEs) caused by the drug, with mild to moderate AEs caused by myeloablative conditioning, stem cell mobilization, underlying disease, or pre-existing conditions. 

The clinical trial, funded by grants from California Institute for Regenerative Medicine, Cystinosis Research Foundation, and National Institutes of Health, has also shown benefits in multiple tissues, such as the skin,eyes, gastrointestinal mucosa, and the neurocognitive system.

New drugs for treating rare pediatric diseases are given greater support from the FDA’s Rare Pediatric Disease Designation and Voucher Program. New Drug Application or Biologics License Application approvals may give companies the opportunity to get a priority review for their product, which the company can then use or sell to a third party.

The FDA has previously given AVR-RD-04 an orphan drug designation. These actions support AVROBIO’s goal of developing personalized gene therapy for patients to use worldwide.


AVROBIO receives rare pediatric disease designation from U.S. Food and Drug Administration (FDA) for first gene therapy in development for cystinosis. September 20, 2022. Accessed September 27, 2022. https://www.yahoo.com/now/avrobio-receives-rare-pediatric-disease-110000492.html?guccounter=1

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