New study sheds light on vision loss in rare genetic brain disorders
NCT ID NCT07019558
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at how spinocerebellar ataxia (SCA) affects the eyes and vision. Researchers will examine 60 adults with SCA types 1, 2, 3, or 27B, including those with early symptoms and those who are not yet symptomatic. The goal is to measure vision changes and eye damage using tests like eye exams and scans, helping to better understand these rare neurological diseases.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 60 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Oct 2025
- Expected to finish
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Oct 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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CHU Montpellier - Hôpital Gui de Chauliac
RECRUITINGMontpellier, Hérault, 34000, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Hunting for the first clues of a devastating brain disease
- Can a single molecule quiet the genetic chaos behind three brain diseases?
- Can targeted brain zaps ease movement problems in a rare ataxia?
- Can we predict how genetic ataxias progress?
- Scientists decode gait signatures to spot brain diseases
- SCA27B study aims to map disease progression in 300 participants