Spinocerebellar AtaxiaAO-SCANCT07019558
Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias
A study testing Neurological assessment and Ophthalmological assessment in people with Spinocerebellar Ataxia, run by University Hospital, Montpellier at 1 site in France.
Trial summary
Spinocerebellar ataxias (SCA) are rare genetic neurological disorders. The most common forms are SCA1, SCA2 and SCA3. Another more recently identified cause of ataxia is SCA27B. These are progressive, incapacitating pathologies, with adult onset (generally between 30 and 60 years of age) and progressive involvement. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Spinocerebellar Ataxia
- What is being tested?
- Neurological assessment and Ophthalmological assessment
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 10 Oct 2025to Oct 2027
- Phase
- Interventional
- 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 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Age between 18 and 80,
- Presence of pathological expansion in ATXN1 (> or equal to 39 CAG), ATXN2 (> or equal to 33 CAG) or ATXN3 (> or equal to 45 CAG) genes, responsible respectively for SCA1, SCA2 or SCA3 or a pathological expansion (>250 GAA) in the FGF14 gene responsible for SCA27B pathology,
- Sujet symptomatic (SARA greater than or equal to 4) or presymptomatic (SARA < 4).
Who cannot join
- Study-specific criteria:
- Subjects with systemic or ophthalmological disease that could affect the retina, impair fundus examination (severe cataract, severe/decompensated diabetes), or cause visual acuity below 20/40, intraocular pressure > 20 mmHg, "cup to disc" ratio > 0. 5, or severe refractive errors
- Subjects with extremely severe neurological impairment, with a significant impact on the ability to perform most ophthalmological examinations; for example in patients for whom sitting, even with back support and cannot be maintained. The possibility of including subjects with a severe form will be evaluated on a case-by-case basis, according to the opinion of the principal investigator and the ophthalmologist.
- General exclusion criteria relating to regulations:
- Failure to obtain consent (adults, non-emancipated minors, persons not in a position to give consent, research carried out in emergency situations, etc.),
- Participants who have reached the maximum amount of compensation for their participation inresearch,
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- Non-affiliation with a social security scheme,
- Persons placed under court protection,
- Person taking part in research.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Montpellier - Hôpital Gui de Chauliac
Montpellier, Hérault, 34000
About this study
Spinocerebellar ataxias (SCA) are rare genetic neurological disorders. The most common forms are SCA1, SCA2 and SCA3. Another more recently identified cause of ataxia is SCA27B.
These are progressive, incapacitating pathologies, with adult onset (generally between 30 and 60 years of age) and progressive involvement. They are characterized by gait instability (ataxia), coordination disorders (dysmetria) and speech disorders (dysarthria). A complex disorder may also be present, with impaired ocular motility, double vision (diplopia) and difficulties with eye movements (ophthalmoplegia).
Read more
In clinical practice, investigators have observed patients with advanced forms of SCA1 or SCA3 reporting a progressive decline in visual acuity. Other recent scientific observations confirm the possible presence of additional ophthalmological damage to the retina or optic nerve in SCA1, SCA2 and SCA3 pathologies.
This study is a cross-sectional study, including subjects with SCA1, SCA2 and SCA3 at different stages of the disease, including the presymptomatic stage, with a complete and systematic study of visual damage.
The same study will be applied to subjects with SCA27B in order to study the presence or absence of visual impairment, and possibly compare it with those of patients with polyglutamine-expanded SCA.
- Conditions
- Spinocerebellar Ataxia
- Being tested
- Neurological assessment, Ophthalmological assessment
- Keywords
- spinocerebellar ataxias, ophtalmology, neurology
- Medical subject headings
- Spinocerebellar Ataxias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Neurological assessmentOther
Collect retrospective and current clinical data and assess motor impairment
Ophthalmological assessmentDiagnostic test
Ophthalmological assessment of possible optic nerve or retinal damage.
| Study group | Role | What they receive |
|---|---|---|
| Participants | Experimental | * Symptomatic subjects with SCA1, SCA2 or SCA3, symptomatic subjects with SCA27B.
* Presymptomatic subjects carrying the mutation for SCA1, SCA2 and SCA3. Receives: Other: Neurological assessment; Diagnostic Test: Ophthalmological assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage (%) of patients with SCA1, SCA2, or SCA3 showing abnormalities for each ophthalmological examination performed.
- Visual Acuity Assessment: Significant reduction in visual acuity (<5/10) unexplained by other causes (such as age or other diseases).
- Color Vision: Normal or pathological, with description of the axis
- Fundus Examination: Normal or pathological (presence of retinopathy or optic nerve atrophy).
- Optical Coherence Tomography (OCT): Evaluation of retinal nerve fiber layer (RNFL) and macular thickness (at 3 mm and 6 mm from the center), including retinal thickness, ganglion cell layer thickness, and the status of the ellipsoid zone. These thickness measurements are quantified according to age-adjusted normative database values.
- Visual Evoked Potentials (VEP): Normal or pathological; if pathological, characterized by prolonged conduction times and/or reduced amplitude.
- Electroretinogram (ERG): Normal or pathological; if pathological, defined by alteration (>2 standard deviations) in the amplitude or latency of a- or b-waves under photopic or scotopic conditions
Measured: 1 day
Secondary outcomes (3)
Percentage (%) of subjects showing abnormalities for each ophthalmological examination performed
Percentage (%) of subjects showing abnormalities for each ophthalmological examination performed to compare disorder across the three different types of SCA.
Measured: 1 day
Severity of clinical impairment assessed by the SARA score (Scale for the Assessment and Rating of Ataxia) and the associated disability scale.
Severity of clinical impairment assessed by the SARA score (Scale for the Assessment and Rating of Ataxia) and the associated disability scale to correlate ophthalmological abnormalities. The SARA is a tool for assessing ataxia. It has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia) where higher scores indicate worse clinical impairment.
Measured: 1 day
Disease duration: number of years between the estimated symptom onset and the time of study inclusion.
Disease duration: number of years between the estimated symptom onset and the time of study inclusion to assess whether this disorder is early and already present at a presymptomatic stage
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jun 2025
- Study start10 Oct 2025
- Primary completionOct 2027 (estimated)
- Study completionOct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinocerebellar AtaxiaStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07019558
- Sponsor's protocol ID
- RECHMPL24_0301
- Acronym
- AO-SCA
- Status last verified
- Nov 2025
- First submitted
- 28 May 2025
- Last updated
- 20 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 20 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias
- ClinicalTrials.gov ID
- NCT07019558
- Acronym / sponsor ID
- AO-SCA / RECHMPL24_0301
- Conditions
- Spinocerebellar Ataxia
- Keywords
- spinocerebellar ataxias, ophtalmology, neurology
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 10 Oct 2025 (actual)
- Primary completion
- Oct 2027 (estimated)
- Study completion
- Oct 2027 (estimated)
- First posted
- 13 Jun 2025 (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.
Spinocerebellar ataxias (SCA) are rare genetic neurological disorders. The most common forms are SCA1, SCA2 and SCA3. Another more recently identified cause of ataxia is SCA27B.
These are progressive, incapacitating pathologies, with adult onset (generally between 30 and 60 years of age) and progressive involvement. They are characterized by gait instability (ataxia), coordination disorders (dysmetria) and speech disorders (dysarthria). A complex disorder may also be present, with impaired ocular motility, double vision (diplopia) and difficulties with eye movements (ophthalmoplegia).
In clinical practice, investigators have observed patients with advanced forms of SCA1 or SCA3 reporting a progressive decline in visual acuity. Other recent scientific observations confirm the possible presence of additional ophthalmological damage to the retina or optic nerve in SCA1, SCA2 and SCA3 pathologies.
This study is a cross-sectional study, including subjects with SCA1, SCA2 and SCA3 at different stages of the disease, including the presymptomatic stage, with a complete and systematic study of visual damage.
The same study will be applied to subjects with SCA27B in order to study the presence or absence of visual impairment, and possibly compare it with those of patients with polyglutamine-expanded SCA.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants | Experimental | Other: Neurological assessment, Diagnostic Test: Ophthalmological assessment* Symptomatic subjects with SCA1, SCA2 or SCA3, symptomatic subjects with SCA27B. * Presymptomatic subjects carrying the mutation for SCA1, SCA2 and SCA3. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Age between 18 and 80,
- Presence of pathological expansion in ATXN1 (> or equal to 39 CAG), ATXN2 (> or equal to 33 CAG) or ATXN3 (> or equal to 45 CAG) genes, responsible respectively for SCA1, SCA2 or SCA3 or a pathological expansion (>250 GAA) in the FGF14 gene responsible for SCA27B pathology,
- Sujet symptomatic (SARA greater than or equal to 4) or presymptomatic (SARA < 4).
Key exclusion criteria (9 listed)
- Study-specific criteria:
- General exclusion criteria relating to regulations:
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 |
|---|---|---|
| Neurological assessmentCollect retrospective and current clinical data and assess motor impairment | Other | Participants |
| Ophthalmological assessmentOphthalmological assessment of possible optic nerve or retinal damage. | Diagnostic test | Participants |
Primary outcome
Percentage (%) of patients with SCA1, SCA2, or SCA3 showing abnormalities for each ophthalmological examination performed.
Time frame: 1 day
* Visual Acuity Assessment: Significant reduction in visual acuity (<5/10) unexplained by other causes (such as age or other diseases). * Color Vision: Normal or pathological, with description of the axis * Fundus Examination: Normal or pathological (presence of retinopathy or optic nerve atrophy). * Optical Coherence Tomography (OCT): Evaluation of retinal nerve fiber layer (RNFL) and macular thickness (at 3 mm and 6 mm from the center), including retinal thickness, ganglion cell layer thickness, and the status of the ellipsoid zone. These thickness measurements are quantified according to age-adjusted normative database values. * Visual Evoked Potentials (VEP): Normal or pathological; if pathological, characterized by prolonged conduction times and/or reduced amplitude. * Electroretinogram (ERG): Normal or pathological; if pathological, defined by alteration (>2 standard deviations) in the amplitude or latency of a- or b-waves under photopic or scotopic conditions
3 secondary outcomes
Percentage (%) of subjects showing abnormalities for each ophthalmological examination performed
Time frame: 1 day
Severity of clinical impairment assessed by the SARA score (Scale for the Assessment and Rating of Ataxia) and the associated disability scale.
Time frame: 1 day
Disease duration: number of years between the estimated symptom onset and the time of study inclusion.
Time frame: Day 1
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 20 Nov 2025.
- Individual participant dataSharing planned: Undecided
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Neurological assessment and Ophthalmological assessment in people with Spinocerebellar Ataxia, run by University Hospital, Montpellier at 1 site in France.
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 3 inclusion and 9 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: looking for participants now, as of the sponsor's last update on 20 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
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 Cecilia Marelli, PH (+33(0)467337413, c-marelli@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage (%) of patients with SCA1, SCA2, or SCA3 showing abnormalities for each ophthalmological examination performed. (time frame: 1 day). 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 20 Nov 2025.