EyeDNA Therapeutics, a subsidiary of Coave Therapeutics, has announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease Designation (RPDD) to HORA-PDE6b, a novel gene therapy for inherited retinal dystrophy (IRD) caused by mutations in the PDE6B gene. This designation highlights the urgent need for effective treatments for this debilitating condition, which often leads to blindness by midlife.
Addressing PDE6b Retinitis Pigmentosa
PDE6b Retinitis Pigmentosa (PDE6b RP) is a rare inherited retinal dystrophy affecting an estimated 3,000 individuals in the United States and 4,000 in Europe, accounting for 1% to 3% of all retinitis pigmentosa (RP) cases. The disease stems from mutations in the PDE6B gene, resulting in a dysfunctional PDE6b protein. This disruption impairs the conversion of light into electrical signals, leading to progressive photoreceptor loss and vision impairment. Symptoms typically manifest in childhood, with progression to blindness by midlife. Currently, there are no approved treatments for PDE6b RP.
HORA-PDE6b: A Novel Gene Therapy Approach
HORA-PDE6b is an AAV5-based gene therapy designed to deliver a functional, non-mutated copy of the human PDE6B gene into the subretinal space. This approach facilitates rapid transgene expression and the synthesis of functional PDE6b protein in photoreceptor cells. By providing these cells with a functional protein, HORA-PDE6b has the potential to significantly delay or even halt retinal degeneration in patients with PDE6b deficiency.
Clinical Trial Data
EyeDNA presented positive 24-month follow-up results from its Phase I/II study (NCT03328130) evaluating the safety and efficacy of HORA-PDE6b at the Association for Research in Vision and Ophthalmology (ARVO) 2024 meeting in Seattle, WA, USA, in May. The company is exploring accelerated approval pathways to make HORA-PDE6b available to PDE6b RP patients in the US and Europe.
Implications of Rare Pediatric Disease Designation
Rare pediatric diseases are defined by the FDA as serious or life-threatening conditions primarily affecting children under 18 years of age, with fewer than 200,000 cases in the United States. Companies receiving an RPDD are eligible for a Rare Pediatric Disease Priority Review Voucher (PRV) upon approval of their designated drug for the pediatric population. This voucher allows the recipient company to request FDA priority review for a New Drug Application (NDA) or Biologics License Application (BLA) for a different product or indication, potentially reducing review time and accelerating market entry by at least four months. PRVs have recently been sold for prices exceeding $100 million.
Rodolphe Clerval, CEO of eyeDNA, stated, "This Rare Pediatric Disease Designation (RPDD) for HORA-PDE6b from the FDA recognizes the urgent need for effective treatments for this devastating disease where early treatment could slow or halt disease progression and have a profound impact on patients’ quality of life. We look forward to providing further data updates from our ongoing Phase I/II trial with HORA-PDE6b, and we are particularly excited to see initial results in younger patients where HORA-PDE6b could produce the greatest clinical benefit."
