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Active, Not Recruiting

NCT Number: NCT05674058

Function and Imaging Assessments for G1961E-associated Stargardt Disease

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Stargardt Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Fundus Flavimaculatus Genetic Diseases, Inborn Macular Degeneration Macular Degeneration, Stargardt Macular Dystrophy With Flecks, Type 1 Retinal Degeneration Retinal Diseases Stargardt Disease 1

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Basel

Basel, Canton of Basel-City, CH-4031, Switzerland

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

No intervention

Other

According to clinical practice.

Primary outcomes

  1. Progression of photoreceptor outer and inner segment loss

    Time frame: Two years from Baseline

    Rate of change for the (square-root transformed) EZ loss area (in mm/yr)

Sponsors and collaborators

Lead sponsor

University Hospital, Basel, Switzerland

Other

Registry information

Official study title

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

Acronym: FIRSTORBIT

Important dates

Study start
2022
Primary completion
2025
Study completion
2025
First posted
Jan 6, 2023
Registry last updated
Apr 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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