Does Recessive Optic Atrophy Due to WFS1 Exist?

NCT07336966 — Not yet recruiting, 45 participants, Hôpital Necker-Enfants Malades

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

Registry	NCT07336966
Status	Not yet recruiting
Study type	Observational
Enrollment	45 (Estimated)
Sponsor	Hôpital Necker-Enfants Malades (Other)
Conditions	Wolfram Syndrome 1, Optic Atrophies, Hereditary
Interventions	analyse study (Other)
Dates	start 2026-02-01 (estimated), primary completion 2026-03-01 (estimated), completion 2026-04-01 (estimated), first posted 2026-01-13, last updated 2026-01-13

-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.

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+Detailed description

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.

+Arms and interventions

Arm	Type	Interventions	Description
wolfram syndrome		Other: analyse study	Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines
recessive optic atrophy		Other: analyse study	patients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation.

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

+Outcome measures

Primary outcomes

Visual acuity at the last visit [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

Evolution of visual acuity [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.
Age [At the occurence of the disease considered as baseline]: Age of the patient at the occurrence of the disease
Global RNFL thickness [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

+Eligibility

Sex: All

Inclusion Criteria:

* WFS1 mutation

Exclusion Criteria:

* WFS2 mutation