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Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias

NCT07019558 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 60

Last updated 2025-11-20

No results posted yet for this study

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. 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.

Conditions

  • Spinocerebellar Ataxia

Interventions

OTHER

Neurological assessment

Collect retrospective and current clinical data and assess motor impairment

DIAGNOSTIC_TEST

Ophthalmological assessment

Ophthalmological assessment of possible optic nerve or retinal damage.

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-10-10
Primary Completion
2027-10-31
Completion
2027-10-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07019558 on ClinicalTrials.gov