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Oculocutaneous albinism (OCA) involves little or no pigment (melanin) in the eyes, skin and hair, which can cause light sensitivity, misaligned eyes, reduced vision and involuntary eye movements; OCA type 1 is caused by changes in the tyrosinase gene needed to produce melanin. This Early Phase 1 study evaluates the safety and efficacy of a single suprachoroidal injection of JWK010, a gene therapy designed to help cells produce functional tyrosinase protein and restore retinal pigment, structure and function in OCA1. Participants must understand the purpose and requirements of the trial, take part voluntarily and sign the informed consent form, with guardians signing for minors.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: 1. 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. 2. Aged ≥5 years and ≤12years (inclusive of the threshold values, based on the date of signing the informed consent form), regardless of gender. 3. Clinically diagnosed with OCA1A type, with ocular and cutaneous manifestations consistent with the clinical presentation of OCA1A. 4. Confirmed by genetic testing to carry pathogenic mutations in both TYR alleles, without carrying pathogenic mutations associated with other ophthalmic genetic diseases. 5. 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 Exclusion Criteria: 1. Presence of any other condition in the study eye that may cause vision loss (e.g., optic atrophy, advanced glaucoma, uveitis). 2. The presence of lens, cornea or other refractive stromal opacity in the study eye affects retinal observation and examination. 3. Presence of ocular conditions that may affect suprachoroidal injection or the assessment of study endpoints. 4. Have undergone intraocular surgery in the study eye within 6 months. 5. Have received any gene therapy or cell therapy in the past. 6. Subjects with childbearing potential are unwilling to use contraceptive measures. 7. Presence of any of the following: active infection requiring systemic treatment which, in the opinion of the investigator, may affect the patient's participation or study results; positive hepatitis B surface antigen (HBsAg) with HBV DNA copy number \> ULN; positive hepatitis C virus (HCV) antibody with HCV-RNA copy number \> ULN; positive Treponema pallidum antibody; positive human immunodeficiency virus (HIV) antibody. 8. Diagnosis of malignancy within 5 years prior to screening (except for adequately treated carcinoma in situ of the cervix, basal cell or squamous cell skin cancer, or ductal carcinoma in situ of the breast after radical resection). 9. Suffering or having suffered from systemic immune system diseases. 10. Abnormal laboratory values considered clinically significant: alanine aminotransferase and/or aspartate aminotransferase \>2.5×ULN, total bilirubin \>1.5×ULN, serum creatinine \>1.5×ULN, prothrombin time ≥1.5× ULN, activated partial thromboplastin time ≥1.5×ULN. 11. There is severe allergy or known allergy to the drugs used for treatment or examination in the research protocol, including allergy to study drugs. 12. Pregnant or lactating women; subjects of childbearing potential who are unable to use effective contraception from 2 weeks prior to screening until 6 months after administration. 13. Other circumstances that the researcher believes are not suitable for participating in this study