An Observational Study in Children and Adults With Stargardt Disease

NCT06591806 | Recruiting

• 1 other identifier: NHS-OBS-01
• Study Type: observational
• Target: 80
• Locations: 2 countries
• Sites: 2

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.

Conditions

Stargardt Disease

Keywords

ABCA4

Outcome Measures

Primary Outcomes (1)

• To measure the change from baseline in Fundus Autofluorescence

  24 months

Eligibility Criteria

• Age: 8 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Stargardt disease secondary to mutation in the ABCA4 gene

You may qualify if:

• Male and female subjects between 8 and 50 years of age at the time of enrolment.
• 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).
• Confirmed mutation in the ABCA4 gene.

You may not qualify if:

• History of uveitis.
• Any ocular disease in either eye that may confound assessment of the retina morphologically and functionally.
• Any pathology of the posterior segment other than ABCA4 retinopathy.
• Presence of any other genetic mutation(s) that have been associated with retinal or macular dystrophy.

Sponsors & Collaborators

• AAVantgarde Bio Srl: lead

Study Sites (2)

Retina Foundation of the Southwest

Dallas, Texas, 75231, United States

RECRUITING

Oslo University hospital Ullevål

Oslo, 0450, Norway

RECRUITING

MeSH Terms

Conditions

Stargardt Disease

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Macular Degeneration; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Clinical Operations Manager

CONTACT

+44 (0) 800 046 5680; clinicaltrials@aavantgarde.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 29, 2024
• First Posted: September 19, 2024
• Study Start: May 1, 2024
• Primary Completion (Estimated): June 30, 2027
• Study Completion (Estimated): June 30, 2027
• Last Updated: August 28, 2025

Record last verified: 2025-08

Locations

NO (1); US (1)