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Does Recessive Optic Atrophy Due to WFS1 Exist?

ConditionsWolfram Syndrome 1Optic Atrophies, Hereditary
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorHôpital Necker-Enfants Malades

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

WFS1 mutation

Disqualifiers

WFS2 mutation

Trial population

patient from our rare disease reference center

Trial design

Design model

Case-control

Time perspective

Retrospective

Treatments tested in this trial

  • analyse study

    Other intervention

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

Treatment groups

45 Participants
are divided into 2 treatment groups
Group A: wolfram syndrome1 intervention
Group B: recessive optic atrophy1 intervention

Trial outcomes

Primary outcomes

1

Visual acuity at the last visit

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

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

Secondary outcomes

1

Evolution of visual acuity

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.

Time frame
Measurement at the occurence of the disease considered as baseline and at the last visit
2

Age

Age of the patient at the occurrence of the disease

Time frame
At the occurence of the disease considered as baseline
3

Global RNFL thickness

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

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

Other outcomes

Locations

This trial has no locations.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Hôpital Necker-Enfants Malades

Lead sponsor

European Georges Pompidou Hospital

Sponsor institution

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: