Adv Exp Med Biol. 2025;1468:89-93. doi: 10.1007/978-3-031-76550-6_15.
ABSTRACT
This study describes worldwide gene therapy clinical trials aimed at treating inherited retinal diseases (IRD). The information was collected through 15 different international registries including clinicaltrials.gov . There have been 101 gene therapy clinical trials targeting IRD up until the end of 2022. Seventy-seven trials employed gene augmentation using viral vectors; other approaches included inhibitory RNA (9), encapsulated cell technology (6), systemic approach (1), and observational trials (8). The most common clinical trial phase was phase 1/2 (46), followed by phase 3 (12). One trial led to an FDA-approved treatment. Sixty-nine trials were conducted in a single country, and 32 trials were multinational; The USA had the highest share in both categories. Retinitis pigmentosa was the most common disease targeted (39), followed by RPE65-mediated retinal dystrophy (13), Leber hereditary optic neuropathy (13), choroideremia (10 and achromatopsia (8), Leber congenital amaurosis (4), X-linked retinoschisis (4), Stargardt disease (4), Bietti’s crystalline dystrophy (2), autosomal dominant optic atrophy (1), and Gyrate atrophy (1). For gene augmentation trials, adeno-associated virus was the most commonly used viral vector (70 trials-90%).
PMID:39930178 | DOI:10.1007/978-3-031-76550-6_15