ClinicalTrials.gov record NCT07019558

Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Age18 years old to 80 years old
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This cross-sectional, single-group study performs detailed eye and neurological testing in adults with genetic SCA1, SCA2, or SCA3 (symptomatic or presymptomatic) or symptomatic SCA27B. Testing is done during a one-day visit and includes visual acuity, fundus exam, OCT, visual evoked potentials, electroretinogram, and a standard ataxia score (SARA). The study records how often eye or optic nerve abnormalities are found and compares findings across SCA types.

What it is studying. Whether people with SCA1, SCA2, SCA3, or SCA27B have retinal or optic nerve damage, how often these findings occur, and how they relate to ataxia severity and disease duration.

What the researchers hope to learn. To document the frequency and types of retinal or optic nerve abnormalities in SCA1, SCA2, SCA3, and SCA27B and to compare eye findings with ataxia severity and disease duration.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Ophthalmological assessment
Other
  • Neurological assessment

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a cross-sectional (single-day) study visit. You would have a neurological assessment (medical history and motor impairment/SARA score) and a full ophthalmological assessment for optic nerve and retinal damage. Eye tests may include visual acuity and color vision checks, fundus examination, optical coherence tomography (OCT), visual evoked potentials (VEP), and electroretinogram (ERG). The study collects current and past clinical information and records the eye test results for comparison across SCA types.

How the study is structured. A single-group interventional study that gives every participant the same set of neurological and ophthalmological tests at a single visit (no masking). Participants receive standardized assessments such as visual acuity and color testing, fundus exam, optical coherence tomography (OCT), visual evoked potentials (VEP), electroretinogram (ERG), and SARA scoring.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on spinocerebellar ataxia

Clinical trials30 trials listed for spinocerebellar ataxiaEvery trial the registry lists for spinocerebellar ataxia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in spinocerebellar ataxia researchLatest monthly update: September 2026. Includes: NBP trial result. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Oct 10, 2025
Primary completion
October 2027 (estimated)
Study completion
October 2027 (estimated)
Target enrollment
60 participants (estimated)
Last updated on registry
Nov 20, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University Hospital, Montpellier

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • CHU Montpellier - Hôpital Gui de ChauliacRecruiting

    Montpellier, Hérault, 34000 · France

Terms used on this page · explanations by MedicalUpdates.ai

principal investigator
The doctor or scientist responsible for running the study at a site or overall.
exclusion criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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