Does Recessive Optic Atrophy Due to WFS1 Exist?

January 2, 2026 updated by: Christophe Orssaud, Hôpital Necker-Enfants Malades

Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?

All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study. Evolution of the visual acuity since the occurrence of the optic atrophy and its last value, OCT data, genetic data and systemic manifestations were analyzed.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

Ophthalmological date will be include : farsighted best corrected visual acuity (BCVA) assessment, slit-lamp examination of the anterior segment, Goldman aplanation tonometry, funduscopy, retinography, Goldman manual visual field and optical coherent tomography (OCT). These will include global value of Retinal Nerve Fiber Layer (RNFL) thickness as well as the ganglion cell complex (GCC) thickness.

Study Type

Observational

Enrollment (Estimated)

45

Contacts and Locations

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

Study Contact

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

patient from our rare disease reference center

Description

Inclusion Criteria:

  • WFS1 mutation

Exclusion Criteria:

  • WFS2 mutation

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

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
wolfram syndrome
Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines
Other: analyse study
Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation
recessive optic atrophy
patients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation.
Other: analyse study
Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Visual acuity at the last visit
Time Frame: The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline
Comparison of visual acuity at the last visual between the 2 groups
The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Evolution of visual acuity
Time Frame: Measurement at the occurence of the disease considered as baseline and at the last visit
We only take in account the first visual assessments and the delay from the occurrence of the OA as well as the last visual assessment when possible and the delay between those two examinations.
Measurement at the occurence of the disease considered as baseline and at the last visit
Age
Time Frame: At the occurence of the disease considered as baseline
Age of the patient at the occurrence of the disease
At the occurence of the disease considered as baseline
Global RNFL thickness
Time Frame: Measurement at the occurence of the disease considered as baseline and at the last visit
Comparison of the global RNFL thickness according to the group and delay from occurence of the disease
Measurement at the occurence of the disease considered as baseline and at the last visit

Collaborators and Investigators

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

Sponsor

Hôpital Necker-Enfants Malades

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 (Estimated)

February 1, 2026

Primary Completion (Estimated)

March 1, 2026

Study Completion (Estimated)

April 1, 2026

Study Registration Dates

First Submitted

November 15, 2025

First Submitted That Met QC Criteria

January 2, 2026

First Posted (Actual)

January 13, 2026

Study Record Updates

Last Update Posted (Actual)

January 13, 2026

Last Update Submitted That Met QC Criteria

January 2, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ROAWFS1

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

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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