Multimodal characterization of patients with CANVAS syndrome and other balance and cerebellar disorders

Multimodal characterization of patients with CANVAS syndrome and other balance and cerebellar disorders - CANVAS-Study

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00039294

Enrollment

Registered

2026-02-11

Start date

2026-03-01

Completion date

Unknown

Last updated

2026-04-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

G11.8

Interventions

Group 1: Observational study of patients with CANVAS syndrome and genetically confirmed RFC1 mutations. Participants will undergo neurological examination

symptom severity will be assessed across various dimensions using questionnaires. Furthermore, subjects will receive electrophysiological evaluation and Magnetic Resonance Imaging (MRI) of the central

these will also undergo genetic testing to rule out an RFC1 mutation and will be characterized using the same neurological and neuroradiological procedures as the subjects in Arm 1.

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

Inclusion criteria: Genetic confirmation or exclusion of RFC. Ability to consent.

Exclusion criteria

Exclusion criteria: MRI Contraindications Pre-existing damage to the CNS or PNS, e.g., due to cerebral infarction, intracranial hemorrhage, traumatic brain injury, or inflammatory diseases. Advanced cognitive impairment. Severe internal or psychiatric disorders. Alcohol, medication, or drug dependence.

Design outcomes

Primary

Measure	Time frame
Within the scope of this cross-sectional study, patients with CANVAS syndrome will be characterized using a multimodal approach. To this end, patients will undergo intensive examination over the course of a single day. Questionnaires Used: SARA: Scale for the Assessment and Rating of Ataxia MoCA: Montreal Cognitive Assessment TMT: Trail Making Test DHI: Dizziness Handicap Inventory WHOQOL-BREF: World Health Organization Quality of Life (Brief Version) Edinburgh Handedness Inventory SCOPA-AUT (Scale for Outcomes in Parkinson's Disease - Autonomic) COMPASS 31: Composite Autonomic Symptom Score Fatigue Severity Scale BDI-II: Beck Depression Inventory-II LCQ: Leicester Cough Questionnaire Further Examinations: Nerve ultrasound MRI of the head (Brain MRI) MRI of the peripheral nervous system Vestibulo-ocular reflex (VOR) testing Blood sampling (Blood collection)	—

Measure

Time frame

Within the scope of this cross-sectional study, patients with CANVAS syndrome will be characterized using a multimodal approach. To this end, patients will undergo intensive examination over the course of a single day. Questionnaires Used: SARA: Scale for the Assessment and Rating of Ataxia MoCA: Montreal Cognitive Assessment TMT: Trail Making Test DHI: Dizziness Handicap Inventory WHOQOL-BREF: World Health Organization Quality of Life (Brief Version) Edinburgh Handedness Inventory SCOPA-AUT (Scale for Outcomes in Parkinson's Disease - Autonomic) COMPASS 31: Composite Autonomic Symptom Score Fatigue Severity Scale BDI-II: Beck Depression Inventory-II LCQ: Leicester Cough Questionnaire Further Examinations: Nerve ultrasound MRI of the head (Brain MRI) MRI of the peripheral nervous system Vestibulo-ocular reflex (VOR) testing Blood sampling (Blood collection)

—

Countries

Germany

Contacts

Public ContactTabea Kürten

Klinik für Neurologie

tabea.kuerten@uni-luebeck.de045150077034

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: May 1, 2026