Ophthalmological Disorders in Dominant Spinal-cerebellar Ataxias

Launched by UNIVERSITY HOSPITAL, MONTPELLIER · Jun 10, 2025

Keywords

ClinConnect Summary

This clinical trial is studying how certain genetic disorders, called spinocerebellar ataxias (SCA), affect vision. These disorders can lead to problems with balance, coordination, and speech as they progress over time. In addition to these symptoms, some patients with SCA1, SCA2, and SCA3 have reported difficulties with their eyesight. The researchers want to better understand how these conditions might damage the eyes and vision by examining people with different stages of these disorders, including those who might not yet show symptoms.

To participate in the study, individuals must be between 18 and 80 years old and have a specific genetic change that causes SCA1, SCA2, SCA3, or SCA27B. Participants will undergo thorough eye examinations to assess any visual problems related to their condition. It's important to note that individuals with other serious eye diseases or severe neurological issues that could affect their ability to participate may not be eligible. This research aims to provide valuable insights into the visual aspects of these disorders and may help improve care for those affected.

Gender

ALL

Eligibility 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.