Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome (VUS in Wolfram)

March 17, 2026 updated by: Christophe Orssaud, Hôpital Necker-Enfants Malades
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype

Study Overview

Status

Active, not recruiting

Conditions

Detailed Description

Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype, especilly on macular OCT, in order to confirm that one of these mutations is a a non pathogenic VUS.

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 Locations

  • France
      • Paris, France, 75015
        • HEGP

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

based on patients examined in our hospital at baseline

Description

Inclusion Criteria:

Having mutations of both alleles of WFS1 gene Considered as Wolfram syndrome in our database -

Exclusion Criteria:

do not have genetic testing aviable

-

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
Patients with recessive Wolfram syndrome
patients with macular delineation or cysts on OCT

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Pathogenicity of WFS1 mutation
Time Frame: from baseline to the completion date assessed up to 2 months
looking for pathogenicity of mutations of patients with macular delineation or cysts on OCT on ClinVar
from baseline to the completion date assessed up to 2 months

Collaborators and Investigators

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

Sponsor

Hôpital Necker-Enfants Malades

Investigators

  • Principal Investigator: Christophe Orssaud, MD, UF Ophthalmology HEGP

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)

March 8, 2026

Primary Completion (Estimated)

April 1, 2026

Study Completion (Estimated)

May 1, 2026

Study Registration Dates

First Submitted

March 8, 2026

First Submitted That Met QC Criteria

March 17, 2026

First Posted (Actual)

March 20, 2026

Study Record Updates

Last Update Posted (Actual)

March 20, 2026

Last Update Submitted That Met QC Criteria

March 17, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • VUSWS080326
  • VUSWS26 (Other Identifier: OPHTARA)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

Legal difficulties

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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