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

N/AActive Not RecruitingNCT07485413

Hôpital Necker-Enfants Malades45 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

Conditions

Optical Coherence Tomography (OCT) of the Retina Mutation

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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 \-

Locations (1)

HEGP

Paris, France

Outcomes

Primary Outcomes

Pathogenicity of WFS1 mutation

looking for pathogenicity of mutations of patients with macular delineation or cysts on OCT on ClinVar

Time frame: from baseline to the completion date assessed up to 2 months

Data from ClinicalTrials.gov

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