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NCT Number: NCT07336966

Does Recessive Optic Atrophy Due to WFS1 Exist?

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.

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

About this study

Ophthalmological date will be include : farsighted best corrected visual acuity (BCVA) assessment, slit-lamp examination of the anterior segment, Goldman aplanation tonometry, funduscopy, retinography, Goldman manual visual field and optical coherent tomography (OCT). These will include global value of Retinal Nerve Fiber Layer (RNFL) thickness as well as the ganglion cell complex (GCC) thickness.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • WFS1 mutation

Exclusion criteria

  • WFS2 mutation

Treatment and study plan

analyse study

Other

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

Primary outcomes

  1. Visual acuity at the last visit

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

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

Secondary outcomes

  1. Evolution of visual acuity

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

    We only take in account the first visual assessments and the delay from the occurrence of the OA as well as the last visual assessment when possible and the delay between those two examinations.

  2. Age

    Time frame: At the occurence of the disease considered as baseline

    Age of the patient at the occurrence of the disease

  3. Global RNFL thickness

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

    Comparison of the global RNFL thickness according to the group and delay from occurence of the disease

Study contacts

Contact information is provided by the study sponsor or research team.

christophe orssaud, MD

CONTACT

[email protected]

33 1 56 09 34 66

Sponsors and collaborators

Lead sponsor

Hôpital Necker-Enfants Malades

Other

Registry information

Official study title

Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?

Important dates

Study start
2026
Primary completion
2026
Study completion
2026
First posted
Jan 13, 2026
Registry last updated
Jan 13, 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.

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