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Gene study aims to solve wolfram syndrome mystery

NCT ID NCT07485413

Knowledge-focused Sponsor: Hôpital Necker-Enfants Malades Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at 45 people with certain changes in the WFS1 gene to figure out if they have a milder, dominant form of wolfram-like syndrome instead of the more severe recessive form. Researchers will use eye scans (OCT) to see if the gene changes are linked to specific eye problems. The goal is to better understand the disease, not to test a new treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 45 people

The number the study aims to enrol. It can still change while the study runs.

Started

Mar 2026

Expected to finish

May 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

based on patients examined in our hospital at baseline

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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 \-

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Conditions

The condition(s) this trial relates to.

ornithine carbamoyltransferase deficiency Wolfram syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Mutation Optical coherence tomography (OCT) of the retina

Contacts and locations

Locations

  • HEGP

    Paris, 75015, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.