Function and Imaging Assessments for G1961E-associated Stargardt Disease

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05674058

Acronym

FIRSTORBIT

Enrollment

Registered

2023-01-06

Start date

2022-11-01

Completion date

2025-10-31

Last updated

2025-04-22

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

Conditions

Fundus Flavimaculatus, Macular Degeneration, Stargardt, Macular Dystrophy With Flecks, Type 1, Stargardt Disease, Stargardt Disease 1

Keywords

Stargardt Disease, STGD1, p.Gly1961Glu, G1961E, c.5882G>A

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.

Interventions

OTHERNo intervention

According to clinical practice.

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

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)

Design outcomes

Primary

Measure	Time frame	Description
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)

Countries

Switzerland

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026