VG801 gene therapy for Stargardt disease from ABCA4 mutations

A Single Arm, Ph1/2, Open-label, Multicenter Trial With Dose-exploration Via Subretinal Injection to Evaluate the Safety and Preliminary Efficacy of VG801 for Treatment of ABCA4 Mutation-associated Recessive Hereditary Retinal Dystrophy (Stargardt Disease)

This open-label, first-in-human trial will try a single dose of VG801 gene therapy in people aged 6 and older who have Stargardt disease from two ABCA4 mutations to see if it is safe and helps vision.

Quick facts

• Phase: Phase1; Phase2
• Study type: Interventional
• Enrollment: 15 (estimated)
• Ages: 6 Years and up
• Sex: All
• Sponsor: VeonGen Therapeutics GmbH (Industry-sponsored)
• Locations: 1 site (Shanghai, Shanghai Municipality)
• Trial ID: NCT07002398 on ClinicalTrials.gov

What this trial studies

This is a single-arm, open-label, dose-escalation first-in-human trial administering a single dose of VG801 to patients with biallelic ABCA4-related Stargardt disease to test safety and preliminary signs of benefit. Participants must have a confirmed molecular diagnosis and poor vision in the study eye and will be enrolled into escalating dose cohorts. Key exclusions include other active ocular disease, recent intraocular surgery, systemic conditions that preclude surgery, or prior gene therapy. Patients will undergo the planned ocular procedure and scheduled follow-up visits to monitor safety and visual outcomes over the study period.

Who should consider this trial

Good fit: Ideal candidates are people aged 6 years or older with a confirmed biallelic ABCA4 mutation, a macular lesion consistent with Stargardt disease, poor vision in the study eye, and who can undergo the required eye procedure and follow-up.

Not a fit: Patients with other active eye diseases (such as uveitis, glaucoma, or diabetic retinopathy), recent intraocular surgery, systemic conditions that preclude surgery, or prior participation in a gene therapy trial are unlikely to benefit from this protocol.

Why it matters

Potential benefit: If successful, VG801 could slow or partially restore central vision loss in patients with ABCA4-related Stargardt disease.

How similar studies have performed: Gene therapy has produced durable vision benefit in other inherited retinal diseases (for example, RPE65-associated disease), but ABCA4-targeted therapies are earlier in development and have not yet been proven in humans.

Eligibility criteria

Inclusion Criteria:

To be eligible for study entry, subjects must satisfy all the following criteria:

1. Written informed consent.
2. Subjects aged ≥ 6 years.
3. Clinical diagnosis of a macular lesion phenotypically consistent with a recessive hereditary macular dystrophy (Stargardt disease).
4. Confirmed molecular diagnosis of ABCA4 mutations (homozygotes or compound heterozygotes).
5. Poor vision in the study eye.

Exclusion Criteria:

Subjects will be excluded from the study if one or more of the following statements are applicable to either eye:

1. Pre-existing eye conditions such as uveitis, glaucoma, or diabetic retinopathy or implantation of a medical device in the vitreous cavity or subretinal space.
2. Systemic diseases that would preclude the planned surgery or interfere with the interpretation of study results.
3. History of intraocular surgery within the previous 6 months.
4. Previous participation in a gene therapy trial.
5. Participation in a clinical trial (investigational drug or medical device) within the previous 6 months.
6. Any other eye disease that may affect the outcome of the study (e.g., ocular opacities, advanced cataracts, amblyopia, etc.).

Where this trial is running

Shanghai, Shanghai Municipality

• Shanghai General Hospital — Shanghai, Shanghai Municipality, China (Recruiting)

Study contacts

• Principal investigator: Xiaodong Sun, MD — Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
• Study coordinator: Research Coordinator

Conditions Retinal Dystrophy Due to Biallelic ABCA4 Mutations; Stargardt Disease 1; ABCA4 mutation; Gene therapy; Eye disease; Stargardt disease; Retinal disease; Retinal degeneration