An Observational Study in Children and Adults With Stargardt Disease

A Multicenter, Prospective, Longitudinal, Observational Study in Children and Adults With Stargardt Disease Related Atrophy Secondary to Biallelic Mutations in the ABCA4 Gene

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06591806

Enrollment

Registered

2024-09-19

Start date

2024-05-01

Completion date

2027-06-30

Last updated

2026-06-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Stargardt Disease

Keywords

ABCA4

Brief summary

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

8 Years to 50 Years

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.

Design outcomes

Primary

Measure	Time frame
To measure the change from baseline in Fundus Autofluorescence	24 months

Countries

Norway, United States

Outcome results