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

June 25, 2025 updated by: University Hospital Tuebingen
Retrospective chart review study to elucidate the phenotype and genotype of children with ABCA4-associated Stargardt disease.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

39

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
    • Baden-Wuerttemberg, Germany
      • Tuebingen, Baden-Wuerttemberg, Germany, Germany, 72076
        • University Hospital Tuebingen

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with genetically confirmed ABCA4-associated inherited retinal dystrophy.

Description

Inclusion Criteria:

  • genetically confirmed ABCA4-associated inherited retinal dystrophy

Exclusion Criteria:

  • 18 years old and older

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital Tuebingen

Investigators

  • Principal Investigator: Laura Kuehlewein, MD, Centre for Ophthalmology, University of Tuebingen
  • Principal Investigator: Susanne Kohl, PhD, Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tuebingen
  • Principal Investigator: Jan-Philipp Bodenbender, MD, Centre for Ophthalmology, University of Tuebingen

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 1, 2022

Primary Completion (Actual)

March 31, 2024

Study Completion (Actual)

March 31, 2024

Study Registration Dates

First Submitted

April 12, 2024

First Submitted That Met QC Criteria

April 19, 2024

First Posted (Actual)

April 22, 2024

Study Record Updates

Last Update Posted (Actual)

June 29, 2025

Last Update Submitted That Met QC Criteria

June 25, 2025

Last Verified

April 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ABCA4-1382022BO2

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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