Wolfram Syndrome 1NCT07336966
Does Recessive Optic Atrophy Due to WFS1 Exist?
An observational study of Wolfram Syndrome 1 and Optic Atrophies, Hereditary, run by Hôpital Necker-Enfants Malades.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Wolfram Syndrome 1, Optic Atrophies, Hereditary
- What is being tested?
- analyse study
- How many people
- 45 participants
- Where
- No sites listed yet
- Study dates
- Feb 2026to Apr 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: patient from our rare disease reference center
Who may be able to join
- WFS1 mutation
Who cannot join
- WFS2 mutation
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?
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.
Read the 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.
- Conditions
- Wolfram Syndrome 1, Optic Atrophies, Hereditary
- Being tested
- analyse study
- Keywords
- WFS1, Wolfram syndrome, hereditary optic neuropathy
- Medical subject headings
- Wolfram Syndrome, Optic Atrophies, Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
analyse studyOther
Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation
| Study group | Role | What they receive |
|---|---|---|
| wolfram syndrome | Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines Receives: 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. Receives: Other: analyse study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Visual acuity at the last visit
Comparison of visual acuity at the last visual between the 2 groups
Measured: 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
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.
Measured: Measurement at the occurence of the disease considered as baseline and at the last visit
Age
Age of the patient at the occurrence of the disease
Measured: At the occurence of the disease considered as baseline
Global RNFL thickness
Comparison of the global RNFL thickness according to the group and delay from occurence of the disease
Measured: Measurement at the occurence of the disease considered as baseline and at the last visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2026
- Study startFeb 2026 (estimated)
- Primary completionMar 2026 (estimated)
- Study completionApr 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wolfram Syndrome 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hôpital Necker-Enfants Malades
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christophe Orssaud, European Georges Pompidou Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07336966
- Sponsor's protocol ID
- ROAWFS1
- Status last verified
- Jan 2026
- First submitted
- 15 Nov 2025
- Last updated
- 13 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?
- ClinicalTrials.gov ID
- NCT07336966
- Acronym / sponsor ID
- ROAWFS1
- Conditions
- Wolfram Syndrome 1, Optic Atrophies, Hereditary
- Keywords
- WFS1, Wolfram syndrome, hereditary optic neuropathy
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Hôpital Necker-Enfants MaladesUniversity, hospital or other
- Study start
- Feb 2026 (estimated)
- Primary completion
- Mar 2026 (estimated)
- Study completion
- Apr 2026 (estimated)
- First posted
- 13 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| wolfram syndrome | – | Other: analyse studyPatients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines |
| recessive optic atrophy | – | Other: analyse studypatients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patient from our rare disease reference center
Key inclusion criteria (1 listed)
- WFS1 mutation
Key exclusion criteria (1 listed)
- WFS2 mutation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| analyse studyRetrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation | Other | recessive optic atrophy, wolfram syndrome |
Primary outcome
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
3 secondary outcomes
Evolution of visual acuity
Time frame: Measurement at the occurence of the disease considered as baseline and at the last visit
Age
Time frame: At the occurence of the disease considered as baseline
Global RNFL thickness
Time frame: Measurement at the occurence of the disease considered as baseline and at the last visit
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Questions about this trial
What is this clinical trial studying?
An observational study of Wolfram Syndrome 1 and Optic Atrophies, Hereditary, run by Hôpital Necker-Enfants Malades.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 13 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact christophe orssaud, MD (33 1 56 09 34 66, christophe.orssaud@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jan 2026.