Gene therapy for treating Leber Congenital Amaurosis caused by RPE65 mutations

A Phase 1/2, Open-label, Multi-national, Multiple-cohort, Dose-escalation Study to Evaluate the Safety, Tolerability, and Efficacy of HG004 Gene Therapy in Subjects with RPE65-associated Leber Congenital Amaurosis Type 2 (LCA2)

Phase1; Phase2 Interventional HuidaGene Therapeutics Co., Ltd. · NCT05906953

This study is testing a new gene therapy called HG004 to see if it can help improve vision in people aged 6 to 50 with Leber Congenital Amaurosis caused by RPE65 mutations.

Quick facts

PhasePhase1; Phase2
Study typeInterventional
Enrollment20 (estimated)
Ages6 Years to 50 Years
SexAll
SponsorHuidaGene Therapeutics Co., Ltd. Industry-sponsored
Locations3 sites (Sacramento, California and 2 other locations)
Trial IDNCT05906953 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the safety and efficacy of HG004, a gene therapy, for patients with Leber Congenital Amaurosis (LCA) linked to RPE65 gene mutations. Participants aged 6 to 50 years will undergo treatment and be monitored for visual and retinal function improvements. The study aims to provide insights into the therapeutic potential of HG004 in restoring vision for individuals affected by this inherited retinal disease.

Who should consider this trial

Good fit: Ideal candidates are males and females aged 6 to 50 with a confirmed diagnosis of LCA due to RPE65 mutations and specific visual acuity criteria.

Not a fit: Patients with pre-existing eye conditions that could interfere with the surgery or study outcomes will not benefit from this trial.

Why it matters

Potential benefit: If successful, this treatment could significantly improve vision and quality of life for patients with LCA caused by RPE65 mutations.

How similar studies have performed: Previous studies on gene therapies for inherited retinal diseases have shown promising results, indicating potential success for this approach.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Male or females between 6 and 50 years of age at the time of signing the informed consent form.
* Willing to adhere to protocol as evidenced by written informed consent or parental permission and subject assent.
* Clinical confirmed diagnosis of Leber congenital amaurosis (LCA) and molecular diagnosis of LCA due to RPE65 mutations.
* Ability to perform tests of visual and retinal function.
* Visual acuity of ≤ 20/80 or visual field less than 20 degrees in the eye to be injected.
* Acceptable hematology, clinical chemistry, and urine laboratory parameters.

Exclusion Criteria:

* Pre-existing eye conditions that would preclude the planned surgery or interfere with interpretation of study endpoints or complications of surgery (e.g., glaucoma requiring upcoming surgery, corneal or significant lenticular opacities).
* Presence of epiretinal membrane by OCT.
* Complicating systemic diseases or clinically significant abnormal baseline laboratory values.
* Complicating systemic diseases would include those in which the disease itself, or the treatment for the disease, can alter ocular function.
* Prior ocular surgery within six months.
* Prior gene therapy or oligonucleotide therapy treatments.
* Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.

Where this trial is running

Sacramento, California and 2 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Leber Congenital AmaurosisInherited Retinal Diseases Caused by RPE65 MutationsIRDLCALCA2
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.