An Observational Study in Children and Adults With Stargardt Disease

Launched by AAVANTGARDE BIO SRL · Sep 9, 2024

Keywords

ClinConnect Summary

This clinical trial is studying Stargardt Disease, a genetic eye condition that affects vision, specifically in individuals with a certain mutation in the ABCA4 gene. The goal of the study is to better understand how the disease progresses in both children and adults, which will help shape future treatments. The researchers are looking to enroll about 80 participants, aged 8 to 50, who have a confirmed mutation in the ABCA4 gene.

To participate, individuals must be willing to follow the study guidelines, and if they are under 18, they will need permission from a parent or guardian. Participants will undergo regular assessments of their eye health to track changes over time. This study is currently recruiting, and it aims to gather important information that could benefit others with Stargardt Disease in the future.

Gender

ALL

Eligibility 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.