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

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

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Optical Coherence Tomography (OCT) of the Retina Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Metabolic Diseases Metabolism, Inborn Errors Mutation Nervous System Diseases Nutritional and Metabolic Diseases Ornithine Carbamoyltransferase Deficiency Disease Urea Cycle Disorders, Inborn

Sex eligibility

All sexes

Study type

Observational

Primary location

HEGP

Paris, 75015, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Pathogenicity of WFS1 mutation

Time frame: 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

Sponsors and collaborators

Lead sponsor

Hôpital Necker-Enfants Malades

Other

Registry information

Acronym: VUS in Wolfram

Important dates

Study start: 2026
Primary completion: 2026
Study completion: 2026
First posted: Mar 20, 2026
Registry last updated: Mar 20, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed