AVROBIO Receives Orphan Drug Designation from the FDA for AVR-RD-04 for Treatment of Cystinosis

CAMBRIDGE, Mass.–(BUSINESS WIRE)–AVROBIO, Inc. (Nasdaq: AVRO), a leading clinical-stage gene therapy company with a mission to free people from a lifetime of genetic disease, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to the company’s investigational gene therapy, AVR-RD-04, for the treatment of cystinosis. The gene therapy consists of the patient’s own hematopoietic stem cells, which are genetically modified to express cystinosin, the protein that is functionally deficient in people with cystinosis. A Phase 1/2 clinical trial to evaluate the safety and efficacy of the investigational gene therapy in patients with cystinosis is ongoing, sponsored by AVROBIO’s academic collaborator at the University of California, San Diego (UCSD).

“We believe lentiviral gene therapy is potentially well suited to comprehensively address these symptoms, since it is designed to restore functional cystinosin throughout the body and brain.”

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“People living with cystinosis need new treatment options to keep cystine from accumulating in the lysosomes of cells, which leads to corneal damage and kidney deterioration, among other complications. Although the current standard of care has improved the outlook for this community, it does not halt disease progression or a wide range of debilitating complications which can severely impact daily lives,” said Geoff MacKay, CEO and president at AVROBIO. “We believe lentiviral gene therapy is potentially well suited to comprehensively address these symptoms, since it is designed to restore functional cystinosin throughout the body and brain.”

Orphan drug designation is granted by FDA to drugs and biologics which are intended for the safe and effective treatment, diagnosis or prevention of rare diseases or conditions that affect fewer than 200,000 people in the U.S. Orphan drug designation provides certain incentives which may include tax credits towards the cost of clinical trials and prescription drug user fee waivers.

About Cystinosis

Cystinosis is a rare, progressive disease marked by the accumulation of cystine in cellular organelles known as lysosomes, causing debilitating symptoms including eye complications (such as severe photophobia), muscle wasting and kidney failure, which often lead to a shortened lifespan. More than 90 percent of untreated patients require a kidney transplant before age 20. The current standard of care for cystinosis, a burdensome treatment regimen that causes severe halitosis and can amount to dozens of pills a day, does not halt disease progression.

About AVR-RD-04

AVR-RD-04 is an investigational, lentiviral-based gene therapy designed to potentially halt or reverse the progression of cystinosis with a single dose of the patient’s own hematopoietic stem cells. Before being transplanted into the patient, the stem cells are collected and genetically modified to express functional cystinosin, a transport protein which reduces the cystine build-up in the lysosomes of cells that cause the symptoms of cystinosis.

The open-label, single-arm Phase 1/2 clinical trial evaluating the safety and efficacy of AVR-RD-04 is being conducted under the name CTNS-RD-04 by the company’s academic collaborators at UCSD, and is led by Stephanie Cherqui, Ph.D., associate professor of pediatrics at UCSD’s School of Medicine and a consultant to the company. The trial is actively enrolling up to six participants, and is funded by grants to UCSD from the California Institute for Regenerative Medicine (CIRM) as well as the Cystinosis Research Foundation (CRF).

About AVROBIO

Our mission is to free people from a lifetime of genetic disease with a single dose of gene therapy. We aim to halt or reverse disease throughout the body by driving durable expression of functional protein, even in hard-to-reach tissues and organs including the brain, muscle and bone. Our clinical-stage programs include Fabry disease, Gaucher disease and cystinosis and we also are advancing a program in Pompe disease. AVROBIO is powered by the plato™ gene therapy platform, our foundation designed to scale gene therapy worldwide. We are headquartered in Cambridge, Mass., with an office in Toronto, Ontario. For additional information, visit avrobio.com, and follow us on Twitter and LinkedIn.

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