FIRSTORBIT: Function and Imaging Assessments for G1961E-associated Stargardt Disease

Sponsor

Institute of Molecular and Clinical Ophthalmology Basel (Other)

Overall Status

Recruiting

CT.gov ID

NCT05674058

Collaborator

(none)

Enrollment

Location

Anticipated Duration (Months)

1.1

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Stargardt Disease Stargardt Disease 1 Fundus Flavimaculatus Macular Degeneration, Stargardt Macular Dystrophy With Flecks, Type 1	Other: No intervention

Study Design

Study Type:

Observational

Anticipated Enrollment :

40 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials

Actual Study Start Date :

Nov 1, 2022

Anticipated Primary Completion Date :

Oct 31, 2025

Anticipated Study Completion Date :

Oct 31, 2025

Outcome Measures

Primary Outcome Measures

Progression of photoreceptor outer and inner segment loss [Two years from Baseline]
Rate of change for the (square-root transformed) EZ loss area (in mm/yr)

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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

Exclusion Criteria:

Inability to give informed consent
Prior surgery (other than anti-VEGF injections, cataract surgery, YAG laser capsulotomy, or laser retinopexy) that - according to the investigator's judgment - may affect visual function assessments (e.g., retinal detachment surgery, glaucoma filtration surgery, or a history of a corneal transplant in the study-eye)
Concurrent ophthalmic conditions in the study eye that (according to the investigator's judgment) may contribute to loss of vision such as clinically significant opacification of the ocular media (corneal dystrophies, cataract), other retinal diseases, or disease of the optic nerve head and visual pathway (including amblyopia)
Major surgery planned or other events that (according to the investigator's judgment) could hinder follow-up examinations (e.g., knee replacement)