MILAN, Italy, Oct. 2, 2025 — AAVantgarde Bio announced that its investigational gene therapy AAVB-039 has received Orphan Drug Designation (ODD) from the U.S. Food and Drug Administration and Clinical Trial Authorisation (CTA) approval from the UK Medicines and Healthcare products Regulatory Agency for the treatment of Stargardt disease. The therapy, now in the Phase 1/2 CELESTE trial, is designed to deliver a full-length ABCA4 protein to address the root genetic cause of the disease.
Science Significance
Stargardt disease is the most common inherited macular degeneration and a leading cause of vision loss in children and young adults. AAVB-039 uses a dual AAV vector approach to package and deliver the large ABCA4 gene, enabling restoration of functional protein expression in retinal cells. This represents a groundbreaking scientific advance as no approved therapies exist today for Stargardt disease.
Regulatory Significance
The Orphan Drug Designation provides key incentives including tax credits, fee waivers, and seven years of U.S. market exclusivity if approved, while the UK CTA approval allows clinical testing to advance in Europe. Together with its Fast Track Designation already in place, these milestones strengthen the therapy’s regulatory profile and accelerate its development toward potential global approval.
Business Significance
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The dual regulatory achievements validate AAVantgarde’s position as a leading innovator in inherited retinal diseases (IRDs). They also enhance the company’s value in the competitive gene therapy landscape, opening the door to partnerships, investment, and expanded pipeline opportunities in other IRDs such as retinitis pigmentosa.
Patients’ Significance
For the estimated 60,000 to 75,000 individuals with Stargardt disease in the U.S. and Europe, AAVB-039 offers hope of the first targeted treatment capable of slowing or halting vision loss. By addressing the underlying genetic mutation, this therapy has the potential to deliver durable benefits and improve quality of life for patients who currently have no approved treatment options.
Policy Significance
The designations underscore the importance of orphan drug and rare disease policies in accelerating therapy development for underserved conditions. By providing regulatory incentives, governments support innovation in areas that would otherwise lack investment, ensuring that patients with rare genetic disorders are not left behind.
The FDA’s Orphan Drug Designation and UK CTA approval for AAVB-039 mark pivotal milestones in the fight against Stargardt disease. With clinical trials underway, these regulatory wins highlight the potential of gene therapy to transform outcomes in inherited retinal disorders and bring much-needed hope to patients worldwide.
Source: AAVantgarde Bio press release
