Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
150 participants
OBSERVATIONAL
2021-12-14
2025-12-31
Brief Summary
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Detailed Description
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Optionally, and depending on local availability at each participating site, additional examinations may be performed including imaging, quantitative movement and speech analysis, vestibular testing, a neuropsychological examination, or examination of swallowing function, all to fully capture the multisystemic presentation of the RFC1 repeat expansion disease.
This study will delineate variable phenotypes of this relatively novel disease, and systematically characterize the longitudinal progression of multi-model biomarkers to determine the most sensitive, comprehensive, and reliable outcomes measures for future therapeutic trials. Here, longitudinal validation of targeted fluid biomarker candidates will be an important part. The multi-modal longitudinal design of the study and its comprehensive assessment will also provide mechanistic insights into the multisystemic evolution of the disease, which will especially allow to track and understand selective as well as overlapping dysfunction of the cerebellum, sensory peripheral nerves, the vestibular system, and additional systems known to be involved in RFC1 disease or 'CANVAS' as its related syndrome.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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RFC1
Participants with genetically confirmed RFC1 repeat expansion disease (ORPHA: 504476; OMIM 102579) will be recruited. Target sample size for the RFC1 cohort is 100 participants.
Clinical rating scale to measure ataxia disease severity and progression
SARA is a clinical scale developed by Schmitz-Hübsch et al which assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.
Unrelated healthy controls
Unrelated healthy controls Healthy controls may undergo the same study procedures as the RFC1 cohort. Target sample size for the control cohort is 50.
No interventions assigned to this group
Interventions
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Clinical rating scale to measure ataxia disease severity and progression
SARA is a clinical scale developed by Schmitz-Hübsch et al which assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
* Written informed consent AND
* Participants are willing and able to comply with study procedures
Exclusion Criteria
* Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent
18 Years
ALL
Yes
Sponsors
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Prof. Dr. Matthis Synofzik
OTHER
Responsible Party
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Prof. Dr. Matthis Synofzik
Principal Investigator, Leading Consultant
Principal Investigators
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Matthis Synofzik, Prof. Dr.
Role: PRINCIPAL_INVESTIGATOR
University Hospital Tübingen
Andreas Traschütz, Dr. Dr.
Role: PRINCIPAL_INVESTIGATOR
University Hospital Tübingen
Locations
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Department of Neuroscience, Central Clinical School, Monash University
Melbourne, Victoria, Australia
Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo
São Paulo, State of São Paulo, Brazil
Service de Neurologie, Hôpitaux Universitaires de Strasbourg
Strasbourg, , France
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen, Baden-Wurttemberg, Germany
German Center for Neurodegenerative Diseases (DZNE)
Bonn, North Rhine-Westphalia, Germany
Department of Neurology University Hospital Schleswig Holstein
Lübeck, Schleswig-Holstein, Germany
Università degli Studi di Napoli 'Federico II', c/o AOU Federico II
Napoli, , Italy
IRCCS Fondazione Stella Maris
Pisa, , Italy
Centre of Brain Research Neurogenetics Research Clinic, University of Auckland
Auckland, , New Zealand
Koç University Hospital, KUTTAM-NDAL
Istanbul, , Turkey (Türkiye)
Countries
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Central Contacts
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Facility Contacts
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Related Links
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Website of the ARCA Registry
Other Identifiers
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RFC1-NHS
Identifier Type: -
Identifier Source: org_study_id
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