Eye problems in dominant spinocerebellar ataxias
Official title: Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias
Run by University Hospital, Montpellier · NCT07019558 · Data updated 2026-11-12
This project tests whether adults with SCA1, SCA2, SCA3, or SCA27B have retinal or optic nerve changes by doing neurological and eye exams.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 18 Years to 80 Years |
| Sex | All |
| Enrollment | 60 (estimated) |
| Sponsor | University Hospital, Montpellier Academic / other |
| Locations | 1 site (Montpellier, Hérault) |
| Status | Recruiting |
| Started | October 10, 2025 |
| Main results expected | October 2027 |
| Study ends | October 2027 |
| Registry record updated | November 20, 2025 |
| Trial ID | NCT07019558 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults 18–80 with genetically confirmed pathogenic expansions (ATXN1 ≥39 CAG, ATXN2 ≥33 CAG, ATXN3 ≥45 CAG, or FGF14 >250 GAA) who are symptomatic or presymptomatic are eligible.
✕Probably not a fit
Patients with other eye or systemic diseases that affect the retina or visual acuity (for example severe cataract, decompensated diabetes), visual acuity below 20/40, intraocular pressure >20 mmHg, cup-to-disc ratio >0.5, severe refractive errors, or extremely severe neurological impairment preventing eye exams are unlikely to benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a single-center, cross-sectional study enrolling adults with genetically confirmed dominant spinocerebellar ataxias to characterize ophthalmological involvement. Participants (symptomatic or presymptomatic, ages 18–80) undergo standardized neurological and detailed eye examinations to look for retinal or optic nerve abnormalities. People with other ocular or systemic conditions that would confound retinal assessment or with very severe neurological disability are excluded. The work is conducted at CHU Montpellier and aims to define the prevalence and features of visual system involvement across SCA genotypes.
Why it matters
Potential benefit: If successful, the findings could enable earlier detection and monitoring of retinal or optic nerve damage in people with SCA, informing clinical care and future trials.
How similar studies have gone: Previous observational reports have noted retinal and optic nerve abnormalities in SCA1–3, but comprehensive cross-sectional data across these genotypes and SCA27B remain limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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). Exclusion Criteria: * 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, * Non-affiliation with a social security scheme, * Persons placed under court protection, * Person taking part in research.
Where it's running
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CHU Montpellier - Hôpital Gui de Chauliac
Montpellier, Hérault, France Recruiting
Study contacts
- Study coordinator: Cecilia Marelli, PH
- Email: c-marelli@chu-montpellier.fr
- Phone: +33(0)467337413
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Effects of Antrodia Cinnamomea on Spinocerebellar Ataxia Symptoms
This study is testing whether a product made from Antrodia cinnamomea can help improve symptoms in people with spinocerebellar ataxia.
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Registry for Spinocerebellar Ataxias in Hong Kong
This study is creating a registry for spinocerebellar ataxias in Hong Kong to help understand the condition better by collecting information from people diagnosed with it and their family members.
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Observing the natural progression of spinocerebellar ataxia
This study looks at how different types of spinocerebellar ataxia progress over time to help understand the disease better and improve care for those affected.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.