NCT07485413

Brief Summary

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

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
45

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Mar 2026

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 8, 2026

Completed
Same day until next milestone

Study Start

First participant enrolled

March 8, 2026

Completed
12 days until next milestone

First Posted

Study publicly available on registry

March 20, 2026

Completed
12 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2026

Completed
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2026

Completed
Last Updated

March 20, 2026

Status Verified

March 1, 2026

Enrollment Period

24 days

First QC Date

March 8, 2026

Last Update Submit

March 17, 2026

Conditions

Optical Coherence Tomography (OCT) of the RetinaMutation

Keywords

macular delineationVUS

Outcome Measures

Primary Outcomes (1)

  • Pathogenicity of WFS1 mutation

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

    from baseline to the completion date assessed up to 2 months

Study Arms (1)

Patients with recessive Wolfram syndrome

patients with macular delineation or cysts on OCT

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

based on patients examined in our hospital at baseline

You may qualify if:

  • Having mutations of both alleles of WFS1 gene Considered as Wolfram syndrome in our database -

You may not qualify if:

  • do not have genetic testing aviable

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

HEGP

Paris, 75015, France

Location

MeSH Terms

Conditions

Ornithine Carbamoyltransferase Deficiency Disease

Condition Hierarchy (Ancestors)

Urea Cycle Disorders, InbornBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Christophe Orssaud, MD

    UF Ophthalmology HEGP

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
MD

Study Record Dates

First Submitted

March 8, 2026

First Posted

March 20, 2026

Study Start

March 8, 2026

Primary Completion

April 1, 2026

Study Completion

May 1, 2026

Last Updated

March 20, 2026

Record last verified: 2026-03

Locations

FR(1)