Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
Oculocutaneous albinism (OCA) is the most common type of albinism. People with OCA have little or no pigment (melanin) in their eyes, skin, and hair. This often leads to symptoms such as sensitivity to light, crossed or misaligned eyes, reduced vision, and involuntary eye movements. OCA type 1 is caused by changes in the tyrosinase gene, which results in a lack or reduced function of the tyrosinase enzyme. This enzyme is essential for producing melanin, so people with OCA1 cannot make enough of it. JWK010 is a gene therapy product developed specifically for patients with OCA1. It is designed to help the cells produce functional tyrosinase protein, with the goal of restoring pigment in the retina and improving retinal structure and function.
• Fully understand the purpose and requirements of this trial, voluntarily participate in the clinical study and sign the informed consent form (for minor subjects, the informed consent form shall be signed by their guardians), and be able to cooperate with all required tests according to the study protocol.
• Aged ≥5 years and ≤12years (inclusive of the threshold values, based on the date of signing the informed consent form), regardless of gender.
• Clinically diagnosed with OCA1A type, with ocular and cutaneous manifestations consistent with the clinical presentation of OCA1A.
• Confirmed by genetic testing to carry pathogenic mutations in both TYR alleles, without carrying pathogenic mutations associated with other ophthalmic genetic diseases.
• The visual acuity of the fellow eye is better than that of the study eye, and the visual acuity of the fellow eye is no less than 20/400