Single suprachoroidal JWK010 gene therapy injection for children with OCA1A

Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)

This trial will try a single suprachoroidal injection of JWK010 gene therapy in children aged 5–12 with TYR-related OCA1A to see if it restores retinal pigment and improves vision.

Quick facts

• Phase: Early Phase 1
• Study type: Interventional
• Enrollment: 18 (estimated)
• Ages: 5 Years to 12 Years
• Sex: All
• Sponsor: West China Hospital (Academic / other)
• Locations: 1 site (Chengdu, Sichuan)
• Trial ID: NCT07313618 on ClinicalTrials.gov

What this trial studies

Children with genetically confirmed OCA1A receive a single suprachoroidal injection of JWK010, a gene therapy designed to deliver a functional TYR (tyrosinase) gene to retinal cells. This early-phase, interventional protocol emphasizes safety monitoring and also looks for signs of pigment return, improvements in retinal structure, and changes in visual function over follow-up visits. Eligible participants must have pathogenic variants in both TYR alleles, meet the visual acuity requirement in the fellow eye (≥20/400), and provide guardian consent. Study procedures include ocular imaging, visual acuity testing, and genetic confirmation, with standard exclusions for other significant ocular or systemic conditions.

Who should consider this trial

Good fit: Children aged 5–12 with clinical OCA1A and confirmed pathogenic mutations in both TYR alleles who can provide assent and have guardian consent and meet the ocular safety criteria are the ideal candidates.

Not a fit: Patients who do not have TYR-related OCA, are outside the 5–12 age range, or have other significant ocular or genetic diseases are unlikely to benefit from this therapy.

Why it matters

Potential benefit: If successful, JWK010 could restore retinal melanin, improve retinal structure, and lead to better visual function for children with OCA1A.

How similar studies have performed: AAV-based gene therapies have produced clear benefits in other inherited retinal disorders (for example RPE65-associated LCA), but human data specific to TYR/OCA1 gene therapy are very limited and this approach remains largely novel.

Eligibility criteria

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

Where this trial is running

Chengdu, Sichuan

• West China Hospital, Sichuan University — Chengdu, Sichuan, China (Recruiting)

Study contacts

• Principal investigator: Fang Lu — Department of Ophthalmology, West China Hospital, Sichuan University
• Study coordinator: Yiliu Yang

Conditions Oculocutaneous Albinism; TYR gene; OCA1