AVROBIO Receives Orphan Drug Designation from the European Commission for AVR‑RD‑04, an Investigational Gene Therapy for Cystinosis

CAMBRIDGE, Mass. – 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 European Commission (EC) has granted orphan drug designation for AVR-RD-04, the company’s investigational gene therapy for the treatment of cystinosis. AVR-RD-04 consists of the patient’s own hematopoietic stem cells, genetically modified to express cystinosin, the protein that is deficient in patients with cystinosis. AVR-RD-04 is currently being evaluated in a Phase 1/2 clinical trial (NCT03897361) sponsored by AVROBIO’s academic collaborator at the University of California, San Diego.1

“People with cystinosis must often adhere to an extremely challenging treatment regimen to manage symptoms of their disease. Despite this chronic treatment, many face a significantly shortened life expectancy and require major interventions, such as a kidney transplant,” said Geoff MacKay, president and CEO of AVROBIO. “This investigational gene therapy, delivered in a single dose, is designed to enable patients to endogenously produce the protein their cells need to prevent the toxic build-up of cystine in tissues throughout the body. We’re pleased to receive orphan drug designation in recognition of the potential of this approach to improve on the standard of care for people living with this relentless lysosomal disorder.”

The EC grants orphan drug designation to drugs and biologics intended for the safe and effective treatment, diagnosis or prevention of rare diseases or conditions that impact fewer than 5 in 10,000 patients in the European Union. Orphan drug designation gives companies certain benefits, including reduced regulatory fees, clinical protocol assistance, research grants and 10 years of market exclusivity following regulatory approval.

AVR-RD-04 has also received orphan drug designation in the U.S. from the Food and Drug Administration.

About Cystinosis

Cystinosis is a rare, progressive disease marked by the accumulation of cystine in cellular organelles known as lysosomes. This buildup can cause debilitating symptoms including kidney failure, corneal damage and thyroid dysfunction, often leading to a shortened lifespan. Currently, more than 90 percent of treated cystinosis patients require a kidney transplant in the second or third decade of life. The current standard of care for cystinosis is cysteamine, a burdensome treatment regimen that can require dozens of pills per day and may not prevent overall progression of the disease.


Our vision is to bring personalized gene therapy to the world. We aim to prevent, halt or reverse disease throughout the body with a single dose of gene therapy designed to drive durable expression of therapeutic protein, even in hard-to-reach tissues and organs including brain, muscle and bone. Our ex vivo lentiviral gene therapy pipeline includes clinical programs in Fabry disease, Gaucher disease type 1 and cystinosis, as well as preclinical programs in Hunter syndrome, Gaucher disease type 3 and Pompe disease. AVROBIO is powered by our industry leading plato® gene therapy platform, our foundation designed to deliver 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.


Investor Contact:
Christopher F. Brinzey
Westwicke, an ICR Company
[email protected]

Media Contact:
Stephanie Simon
Ten Bridge Communications
[email protected]