ABCA4-associated Disease in Childhood and Adolescence - a Phenotype Study

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06377150

Enrollment

Registered

2024-04-22

Start date

2022-04-01

Completion date

2024-03-31

Last updated

2025-06-29

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

Conditions

Stargardt Disease

Keywords

Stargardt Disease, ABCA4, inherited retinal dystrophy

Brief summary

Retrospective chart review study to elucidate the phenotype and genotype of children with ABCA4-associated Stargardt disease.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* genetically confirmed ABCA4-associated inherited retinal dystrophy

Exclusion criteria

* 18 years old and older

Design outcomes

Primary

Measure	Time frame	Description
Best Corrected Visual Acuity (BCVA)	January 2014 - May 2021	best corrected visual acuity
Visual Field (VF)	January 2014 - May 2021	visual field as measured by semi-automated 90° kinetic visual field exam using target III4e
Fundus Photography (FP)	January 2014 - May 2021	characterization of the retina with fundus photography
Fundus Autofluorescence (AF)	January 2014 - May 2021	characterization of the retina with fundus autofluorescence
Optical Coherence Tomography (OCT)	January 2014 - May 2021	characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss
Full-Field Electroretinography (ff-ERG)	January 2014 - May 2021	characterization of retinal function with full-field electroretinogram

Countries

Germany

Outcome results