China-based HuidaGene (Shanghai) Biotechnology Co., Ltd has announced receiving Investigational New Drug (IND) approval from the Center for Drug Evaluation (CDE) in China for its ophthalmology gene therapy, HG004. This gene replacement therapy drug utilizes a recombinant non-adeno-associated virus serotype 2 (non-AAV2) vector to deliver a functional human RPE65 gene to the retina, aiming to restore, treat, and prevent blindness in children and adults with RPE65 mutation-associated hereditary retinal dystrophy (IRD).
Study Design and Endpoints
The multi-country, multi-center, multi-cohort, dosage exploration study is designed to assess the safety, tolerability, efficacy, and long-term clinical persistence of HG004 in RPE65 retinopathy. Primary endpoints include adverse events, specific laboratory tests, and ophthalmic examinations. The multi-luminance mobility testing (MLMT) will also be used to evaluate visual function, providing a comprehensive assessment of the therapy’s impact on patients’ visual capabilities.
Understanding Hereditary Retinal Dystrophy (IRD)
IRD is a rare blinding disease caused by genetic mutations, with over 250 reported pathogenic genes. Mutations in the RPE65 gene can lead to a range of conditions including Leber congenital amaurosis (LCA), severe early-onset childhood retinal dystrophy (SECORD), early onset severe retinal dystrophy (EOSRD), or retinitis pigmentosa (RP), all of which are considered RPE65 related retinopathy and represent a phenotype continuum of the same disease. RPE65 gene mutation-associated retinopathy typically manifests between birth and 5 years old, with main clinical manifestations including night blindness, progressive visual field loss, and central visual loss.-Fineline Info & Tech
