NCT07485413

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

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 45 (estimated)
• Sponsor: Hôpital Necker-Enfants Malades · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Optical Coherence Tomography (OCT) of the Retina
• Mutation

Timeline

• Start date: 2026-03-08
• Primary completion: 2026-04-01
• Completion: 2026-05-01
• First posted: 2026-03-20
• Last updated: 2026-03-20

Locations

1 site across 1 country: France