An Observational Study in Children and Adults With Stargardt Disease

AAVantgarde Bio Srl

Status: Enrolling

Conditions: Stargardt Disease

Study type: Observational

Funder types: Industry

Identifiers

NCT06591806

NHS-OBS-01

Details and patient eligibility

About

This multicenter, prospective, longitudinal, observational study in approximately 80 subjects with Stargardt disease secondary to biallelic mutations in the ABCA4 gene (STGD1) aims to evaluate prognostic factors of disease progression, and to further characterize the patient population for future clinical studies.

Enrollment: 80 estimated patients

Sex: All

Ages: 8 to 50 years old

Volunteers: No Healthy Volunteers

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.