Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials
Status: Active_not_recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY
Some phenotypes of Stargardt disease are rather distinct. This includes the 'bull's eye maculopathy' phenotype associated with the frequent ABCA4 G1961E variant. In anticipation of a treatment trial, this natural history study aims to compare functional and structural outcome measures systematically.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:
• Adult patients with G1961E-associated Stargardt disease
• Defined by (1.) the presence of two pathogenic ABCA4 variants with at least one ABCA4G1961E variant, (2.) a Stargardt disease phenotype, and (3.) the absence of pathogenic variants in PRPH2, PROM1, and ELOVL4
Locations
Other Locations
Switzerland
University Hospital Basel
Basel
Time Frame
Start Date: 2022-11-01
Completion Date: 2025-10-31
Participants
Target number of participants: 20
Related Therapeutic Areas
Sponsors
Leads: University Hospital, Basel, Switzerland