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.

Study Overview

• Status: Recruiting
• Conditions: Oculocutaneous Albinism (OCA)
• Intervention / Treatment: Genetic: JWK010 gene therapy

• Study Type: Interventional
• Enrollment (Estimated): 18
• Phase: Early Phase 1

Contacts and Locations

• Study Contact: Name: Yiliu Yang; Phone Number: +86-18200452924; Email: y1161606786@163.com

Study Locations

• China
  • Sichuan
    • Chengdu, Sichuan, China, 610041
      • Recruiting
      • West China Hospital, Sichuan University
      • Contact: Yiliu Yang; Phone Number: +86-18200452924; Email: y1161606786@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Non-Randomized
• Interventional Model: Sequential Assignment
• Masking: Single

Number of Arms

3

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: JWK010 at Dose 1; Suprachoroidal injection dose 1 of JWK010 in one eye	Genetic: JWK010 gene therapy; JWK010: AAV vector containing a coding sequence for tyrosinase.
Experimental: JWK010 at Dose 2; Suprachoroidal injection dose 2 of JWK010 in one eye	Genetic: JWK010 gene therapy; JWK010: AAV vector containing a coding sequence for tyrosinase.
Experimental: JWK010 at Dose 3; Suprachoroidal injection dose 3 of JWK010 in one eye	Genetic: JWK010 gene therapy; JWK010: AAV vector containing a coding sequence for tyrosinase.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety(Participants With Ocular and Non-ocular AEs (Adverse Events) and SAEs (Serious Adverse Events)	The primary outcome measures are safety, determined by the number of ocular and non-ocular Study Drug-related adverse events (SDAE), treatment-emergent adverse events (TEAEs) and serious adverse events (SAEs).	Baseline to day 7, day 14, month 1, 3, 6, 12

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Best Corrected Visual Acuity (BCVA)	Visual acuity of the study eye was assessed using the Early Treatment Diabetic Retinopathy Study (ETDRS)	Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Eye Movement	The function of gaze, scanning, tracking and other movement	Baseline to month 1, 3, 6, 12
Pigmentation of the Fundus	Evaluate retinal pigmentation and changes from baseline through fundus examination and fundus photography	Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Macular Structure as Assessed by Swept Source Optical Coherence Tomography	Change in swept source optical coherence tomography(SS-OCT)	Baseline to day 7, day 14, month 1, 2, 3, 6, 12
Electroretinogram	The ERG measurement will be performed based on the standards of international society for clinical electrophysiology of vision (ISCEV)	Baseline to month 1, 3, 6, 12

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
FST threshold		Baseline to month 1, 3, 6, 12
Contrast sensitivity, stereoscopic functional examination and color blindness examination		Baseline to month 1, 3, 6, 12
Structure and function of optic chiasm and visual pathway	Evaluate the structure and function of the optic chiasm and visual pathway of patients through visual evoked potential (VEP) and head MRI plain scan and functional imaging.	Baseline to month 1, 3, 6 and 12

Collaborators and Investigators

• Sponsor: West China Hospital
• Investigators: Principal Investigator: Fang Lu, Department of Ophthalmology, West China Hospital, Sichuan University

Study record dates

Study Major Dates

• Study Start (Estimated): December 22, 2025
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030

Study Registration Dates

• First Submitted: December 17, 2025
• First Submitted That Met QC Criteria: December 17, 2025
• First Posted (Estimated): January 2, 2026

Study Record Updates

• Last Update Posted (Estimated): January 12, 2026
• Last Update Submitted That Met QC Criteria: January 8, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: OCA1; TYR gene
• Additional Relevant MeSH Terms: Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Eye Diseases; Skin Diseases; Eye Diseases, Hereditary; Hypopigmentation; Pigmentation Disorders; Skin Diseases, Genetic; Amino Acid Metabolism, Inborn Errors; Albinism; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Albinism, Oculocutaneous
• Other Study ID Numbers: 2025-1619

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No