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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07485413

Acronym

VUS in Wolfram

Enrollment

Registered

2026-03-20

Start date

2026-03-08

Completion date

2026-05-01

Last updated

2026-03-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Mutation, Optical Coherence Tomography (OCT) of the Retina

Keywords

macular delineation, VUS

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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 \-

Design outcomes

Primary

Measure	Time frame	Description
Pathogenicity of WFS1 mutation	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

Countries

France

Contacts

PRINCIPAL_INVESTIGATORChristophe Orssaud, MD

UF Ophthalmology HEGP

Outcome results