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Clinical Trials in France / NCT07485413
Active, not recruiting Observational

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

NCT07485413 · tracked via the Priya Life Science France tracker
Sponsor
Hôpital Necker-Enfants Malades
Phase
Observational
Started
2026-03-08
Last updated
2026-03-20

Condition(s) studied

Optical Coherence Tomography (OCT) of the RetinaMutation

Study summary

Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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 \-

Primary outcome measure(s)

  • 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

Trial sites (1)

FacilityCityRegionStatus
HEGP Paris France

More Hôpital Necker-Enfants Malades trials in France

Surrogate Markers of Response to New Therapies in Cystic Fibrosis Patients Recruiting
Mechanisms of Fecal Incontinence in Wolfram Syndrome Starting soon
Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT) Recruiting

Other trials for the same condition

Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes. Active, not recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07485413 on ClinicalTrials.gov ↗ ← All trials in France