Does Recessive Optic Atrophy Due to WFS1 Exist?

NCT07336966 | Not Yet Recruiting

• 1 other identifier: ROAWFS1
• Study Type: observational
• Target: 45
• Locations: 0 countries
• Sites: N/A

Brief Summary

All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study. Evolution of the visual acuity since the occurrence of the optic atrophy and its last value, OCT data, genetic data and systemic manifestations were analyzed.

Conditions

Wolfram Syndrome 1; Optic Atrophies, Hereditary

Keywords

WFS1; Wolfram syndrome; hereditary optic neuropathy

Outcome Measures

Primary Outcomes (1)

• Visual acuity at the last visit

  Comparison of visual acuity at the last visual between the 2 groups

  The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline

Secondary Outcomes (3)

• Evolution of visual acuity

  Measurement at the occurence of the disease considered as baseline and at the last visit

• Age

  At the occurence of the disease considered as baseline

• Global RNFL thickness

  Measurement at the occurence of the disease considered as baseline and at the last visit

Study Arms (2)

wolfram syndrome

Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines

Other: analyse study

recessive optic atrophy

patients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation.

Other: analyse study

Interventions

analyse study OTHER

Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation

recessive optic atrophy; wolfram syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patient from our rare disease reference center

You may qualify if:

• WFS1 mutation

You may not qualify if:

• WFS2 mutation

Sponsors & Collaborators

• Hôpital Necker-Enfants Malades: lead

MeSH Terms

Conditions

Wolfram Syndrome; Optic Atrophies, Hereditary

Condition Hierarchy (Ancestors)

Deaf-Blind Disorders; Deafness; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Optic Atrophy; Optic Nerve Diseases; Cranial Nerve Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Sensation Disorders; Neurologic Manifestations; Blindness; Vision Disorders; Eye Diseases, Hereditary; Eye Diseases; Diabetes Insipidus; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Diabetes Mellitus, Type 1; Diabetes Mellitus; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Pituitary Diseases

Central Study Contacts

christophe orssaud, MD

CONTACT

33 1 56 09 34 66; christophe.orssaud@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, Responsible CRMR Ophtara HEGP

Study Record Dates

• First Submitted: November 15, 2025
• First Posted: January 13, 2026
• Study Start: February 1, 2026
• Primary Completion: March 1, 2026
• Study Completion: April 1, 2026
• Last Updated: January 13, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share