Active — Not RecruitingNot Applicable

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

France45 participantsStarted 2026-03-08

Plain-language summary

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

Who can participate

SexALL

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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 \-

What they're measuring

Pathogenicity of WFS1 mutation

Timeframe: from baseline to the completion date assessed up to 2 months

Trial details

NCT IDNCT07485413

SponsorHôpital Necker-Enfants Malades

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-04

View on ClinicalTrials.gov More Optical Coherence Tomography (OCT) of the Retina trials