Optical Coherence Tomography (OCT) of the RetinaVUS in WolframNCT07485413
Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
An observational study of Optical Coherence Tomography (OCT) of the Retina and Mutation, run by Hôpital Necker-Enfants Malades at 1 site in France.
Trial summary
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Optical Coherence Tomography (OCT) of the Retina, Mutation
- How many people
- 45 participants
- Where
- 1 siteFrance
- Study dates
- 8 Mar 2026to May 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: based on patients examined in our hospital at baseline
Who may be able to join
- Having mutations of both alleles of WFS1 gene Considered as Wolfram syndrome in our database -
Who cannot join
- do not have genetic testing aviable
- -
Trial locations and contacts
1 site in 1 country.
About this study
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype
Read the 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.
- Keywords
- macular delineation, VUS
- Medical subject headings
- Ornithine Carbamoyltransferase Deficiency Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with recessive Wolfram syndrome | patients with macular delineation or cysts on OCT |
What is being measured
The primary outcome is the main question the study is designed to answer.
Pathogenicity of WFS1 mutation
looking for pathogenicity of mutations of patients with macular delineation or cysts on OCT on ClinVar
Measured: from baseline to the completion date assessed up to 2 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Mar 2026
- Study start8 Mar 2026
- Primary completionApr 2026 (estimated)
- Study completionMay 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Optical Coherence Tomography (OCT) of the RetinaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hôpital Necker-Enfants Malades
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christophe Orssaud, Hôpital Necker-Enfants Malades
- Investigators
- Christophe Orssaud, MD, Principal investigator, UF Ophthalmology HEGP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07485413
- Sponsor's protocol ID
- VUSWS080326
- Other IDs
- VUSWS26
- Acronym
- VUS in Wolfram
- Status last verified
- Mar 2026
- First submitted
- 8 Mar 2026
- Last updated
- 20 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Legal difficulties
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
- ClinicalTrials.gov ID
- NCT07485413
- Acronym / sponsor ID
- VUS in Wolfram / VUSWS080326
- Keywords
- macular delineation, VUS
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Hôpital Necker-Enfants MaladesUniversity, hospital or other
- Study start
- 8 Mar 2026 (actual)
- Primary completion
- Apr 2026 (estimated)
- Study completion
- May 2026 (estimated)
- First posted
- 20 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with recessive Wolfram syndrome | – | –patients with macular delineation or cysts on OCT |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- based on patients examined in our hospital at baseline
Key inclusion criteria (1 listed)
- Having mutations of both alleles of WFS1 gene Considered as Wolfram syndrome in our database -
Key exclusion criteria (2 listed)
- do not have genetic testing aviable
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2026.
- Individual participant dataSharing planned: Undecided. Legal difficulties
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Christophe Orssaud, MD principal investigator
UF Ophthalmology HEGP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Optical Coherence Tomography (OCT) of the Retina and Mutation, run by Hôpital Necker-Enfants Malades at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 20 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Pathogenicity of WFS1 mutation (time frame: from baseline to the completion date assessed up to 2 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Mar 2026.