Gene therapy for X-linked retinoschisis in children and adolescents

Clinical Study on the Safety and Efficacy of JWK002 Injection Administered as a Single Subretinal Injection in Subjects With X-linked Retinoschisis

This study is testing a new gene therapy for boys aged 5 to 18 with X-linked retinoschisis to see if it can improve their vision and eye health.

Quick facts

• Phase: EARLY_PHASE1
• Study type: Interventional
• Enrollment: 12 (estimated)
• Ages: 5 Years to 18 Years
• Sex: Male
• Sponsor: West China Hospital (other)
• Locations: 1 site (Chengdu, Sichuan)
• Trial ID: NCT06345898 on ClinicalTrials.gov

What this trial studies

This trial evaluates the safety and efficacy of JWK002, a gene therapy, administered via a single subretinal injection to treat X-linked retinoschisis (XLRS) in male subjects aged 5 to 18 years. Participants will be selected based on a confirmed diagnosis of XLRS through genetic testing, specifically identifying mutations in the RS1 gene. The study aims to assess the treatment's impact on visual acuity and overall eye health. The trial will follow strict inclusion and exclusion criteria to ensure the safety and appropriateness of the intervention for each participant.

Who should consider this trial

Good fit: Ideal candidates are males aged 5 to 18 years with a confirmed diagnosis of XLRS and specific visual acuity criteria.

Not a fit: Patients with other ophthalmic genetic diseases or significant eye conditions that may cause vision loss will not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could significantly improve vision and quality of life for patients with X-linked retinoschisis.

How similar studies have performed: While gene therapy for retinal diseases is a growing field, this specific approach for XLRS is novel and has not been extensively tested in prior studies.

Eligibility criteria

Inclusion Criteria:

1. Fully understand the purpose and requirements of the trial, voluntarily participate in the clinical trial and sign the informed consent, and be able to cooperate with the testing required in various studies according to the requirements of the program;
2. Male, ≥5 years old and \< 18 years old (subject to the date of signing the informed consent);
3. Clinically diagnosed XLRS, identified by genetic testing as RS1 gene mutation, and do not carry other mutations causing ophthalmic genetic diseases;
4. Best corrected visual acuity (BCVA) of the study eye ≤63 letters (equivalent to Snellen 20/63); Best corrected visual acuity (BCVA) ≥34 letters (equivalent to Snellen 20/200).

Exclusion Criteria:

1. Carbonic anhydrase inhibitor treatment within 3 months;
2. The presence of other conditions in the study eye that may cause vision loss (e.g., atrophy of the optic nerve, advanced glaucoma, uveitis, the presence of vesicular splitting chambers or vesicular retinal detachment that may affect the subretinal injection operator);
3. Those who study the retinal observation and examination caused by lens, cornea or other refractive interstitial turbidity;
4. There are eye conditions affecting subretinal injection or eye conditions affecting the determination of the study endpoint;
5. Patients who had undergone internal eye surgery within 6 months;
6. Patients with AAV8 neutralizing antibody titer ≥1:1000;
7. Have previously received any gene therapy or cell therapy;
8. fertile subjects are unwilling to use contraception;
9. The presence of any of the following: an active infection that the investigator believes may affect the patient's participation in the study or affect the study results that requires systematic treatment; Hepatitis B surface antigen positive, hepatitis B virus deoxyribonucleic acid (HBV DNA) copy number \> ULN; Hepatitis C virus (HCV) antibody positive and HCV-RNA copy number \>ULN; Treponema pallidum antibody positive; Positive for human immunodeficiency virus (HIV) antibodies;
10. Malignant tumors (basal cell or squamous cell skin cancer) were diagnosed within 5 years prior to screening;
11. has or has had a systemic immune system disease;
12. Laboratory values considered to be clinically significant were abnormal: alanine and/or aspartate transaminase \>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; (13) have a severe allergy or a known allergy to the drugs used in the treatment or examination in the study protocol, including the investigational drug allergy;

(14) Other situations that the investigator considers inappropriate for participation in this study.

Where this trial is running

Chengdu, Sichuan

• West China Hospital — Chengdu, Sichuan, China (RECRUITING)

Study contacts

• Principal investigator: Fang Lu — [e-mail]
• Study coordinator: Licong Liang

Conditions: X Linked Retinoschisis