Looking for VUS to Confirm Dominant Wolfram-like Syndrome... | NCT07485413

Studies
Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome

NCT07485413

Sponsor

Hôpital Necker-Enfants Malades

Status

Active, not recruiting

Last Update Posted

Mar 20, 2026Actual

Enrollment

45Estimated

Phase

Not provided

Conditions

Optical Coherence Tomography (OCT) of the Retina
Mutation

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
VUSWS26	Other Identifier	OPHTARA

Status Module

Record Verification Date

Mar 2026

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 8, 2026Actual

Primary Completion Date

Apr 2026Estimated

Completion Date

May 2026Estimated

First Submitted Date

Mar 8, 2026

First Submission Date that Met QC Criteria

Mar 17, 2026

First Posted Date

Mar 20, 2026Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 17, 2026

Last Update Posted Date

Mar 20, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

45Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Patients with recessive Wolfram syndrome		patients with macular delineation or cysts on OCT

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Pathogenicity of WFS1 mutation	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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

based on patients examined in our hospital at baseline

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Christophe Orssaud, MD	UF Ophthalmology HEGP	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
HEGP		Paris		75015	France

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Legal difficulties

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D020163	Ornithine Carbamoyltransferase Deficiency Disease

Ancestor Terms

ID	Term
D056806	Urea Cycle Disorders, Inborn
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases

Browse Leaves

Not provided

Browse Branches

Not provided