Observational study of Stargardt disease in children and adults
A Multicenter, Prospective, Longitudinal, Observational Study in Children and Adults With Stargardt Disease Related Atrophy Secondary to Biallelic Mutations in the ABCA4 Gene
This study looks at how Stargardt disease affects children and adults over time to better understand the condition and help with future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 80 (estimated) |
| Ages | 8 Years to 50 Years |
| Sex | All |
| Sponsor | AAVantgarde Bio Srl Industry-sponsored |
| Locations | 2 sites (Dallas, Texas and 1 other locations) |
| Trial ID | NCT06591806 on ClinicalTrials.gov |
What this trial studies
This multicenter, prospective, longitudinal observational study aims to evaluate prognostic factors of disease progression in approximately 80 subjects with Stargardt disease caused by biallelic mutations in the ABCA4 gene. The study will characterize the patient population to inform future clinical studies. Participants will be monitored over time to gather data on the progression of their condition.
Who should consider this trial
Good fit: Ideal candidates are males and females aged 8 to 50 with confirmed mutations in the ABCA4 gene.
Not a fit: Patients with other ocular diseases or genetic mutations associated with retinal dystrophy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Stargardt disease progression and inform future treatment strategies.
How similar studies have performed: While this study is observational, similar studies have provided valuable insights into genetic conditions, suggesting potential for meaningful findings.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Male and female subjects between 8 and 50 years of age at the time of enrolment. 2. Willingness to adhere to the protocol as evidenced by written informed consent if the subject is 18 years or older. If the subject is under 18 years of age, written assent must be obtained from the subject and written informed consent must be obtained from the subject's legally authorized representative (parent or legal guardian). 3. Confirmed mutation in the ABCA4 gene. Exclusion Criteria: 1. History of uveitis. 2. Any ocular disease in either eye that may confound assessment of the retina morphologically and functionally. 3. Any pathology of the posterior segment other than ABCA4 retinopathy. 4. Presence of any other genetic mutation(s) that have been associated with retinal or macular dystrophy.
Where this trial is running
Dallas, Texas and 1 other locations
- Retina Foundation of the Southwest — Dallas, Texas, United States (Recruiting)
- Oslo University hospital Ullevål — Oslo, Norway (Recruiting)
Study contacts
- Study coordinator: Clinical Operations Manager
- Email: clinicaltrials@aavantgarde.com
- Phone: +44 (0) 800 046 5680
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.