Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials
Status: Recruiting
Closest Recruiting Location:
University Hospital Basel
Basel, Switzerland (4099.8 mi away)
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: No
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
Recruiting
Basel
Contact Information
Primary
Maximilian Pfau, MD
maximilian.pfau@usb.ch
+41 79 525 92 47
Time Frame
Start Date: November 1, 2022
Estimated Completion Date: October 31, 2025
Participants
Target number of participants: 40
Related Therapeutic Areas
Sponsors
Leads: Institute of Molecular and Clinical Ophthalmology Basel