Shanghai-based genome medicines specialist HuidaGene Therapeutics has announced a positive opinion from the European Medicines Agency (EMA) for the Committee for Orphan Medicinal Products (COMP) on the orphan designation filing for its HG004. The gene therapy is designed for the treatment of inherited retinal dystrophy caused by dysfunction in the RPE65 gene.
HG004: Innovative Gene Therapy
HG004 is an innovative gene therapy that offers significant benefits for patients with inherited retinal diseases (RPE65-IRD) caused by RPE65 mutations. It utilizes an optimized retinal pigment epithelium (RPE) tropism viral vector, designed to restore the visual cycle in patients with RPE65 gene mutations. This therapy aims to improve light perception and prevent progressive retinal degeneration that leads to blindness. Previously, the drug was awarded orphan drug designation (ODD) and rare pediatric disease designation (RPDD) in the US in 2023.
Inherited Retinal Disease (IRD) Background
Inherited retinal disease (IRD) is a group of rare, genetically defined conditions that lead to progressive vision loss. RPE65 gene mutations are among the most well-known causes of IRD, leading to diseases such as Leber’s congenital amaurosis (LCA), severe early childhood-onset retinal dystrophy (SECORD), early-onset severe retinal dystrophy (EOSRD), and retinitis pigmentosa (RP). These conditions typically onset between birth and five years of age and exhibit several common clinical findings, including night blindness (light staring with profound nyctalopia and nystagmus), progressive loss of visual fields, and loss of central vision. These symptoms significantly impact quality of life and, in many cases, lead to complete blindness. Given the often severe and early visual loss associated with RPE65-IRD, other areas of development, including speech, social skills, and behavior, may also be delayed.
Significance of the Orphan Designation
The positive opinion from the EMA for the orphan designation of HG004 underscores the potential of this gene therapy to address the significant unmet medical need in treating RPE65-IRD. This designation is expected to facilitate the development and regulatory review process, bringing this innovative treatment option closer to patients in need.-Fineline Info & Tech
