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

Study acronym: VUS in Wolfram
StatusActive, Not Recruiting
PhaseNot specified
Started
View on ClinicalTrials.gov ↗
Record status
This record was last updated March 20, 2026 (before its estimated April 2026 completion). Its status may not reflect the trial's current state.

Record History

  1. Study First Submitted
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype
Trial Details
NCT Number NCT07485413
Lead Sponsor Hôpital Necker-Enfants Malades
Conditions
(from sponsor)		 Optical Coherence Tomography (OCT) of the Retina, Mutation
Related terms Ornithine Carbamoyltransferase Deficiency Disease
Enrollment 45 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov