Ignite Creation Date:
2024-05-06 @ 5:02 PM
Last Modification Date:
2024-10-26 @ 2:21 PM
Study NCT ID:
NCT05177809
Status:
RECRUITING
Last Update Posted:
2024-06-20
First Post:
2021-12-14
Brief Title:
RFC1 Natural History Study
Sponsor:
Prof Dr Matthis Synofzik
Organization:
University Hospital Tuebingen
Study Overview
Official Title:
RFC1 Natural History Study
Status:
RECRUITING
Status Verified Date:
2024-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
RFC1-NHS
Brief Summary:
This international multi-center multi-modal and prospective observational study aims to determine the phenotypic spectrum and the natural progression of the RFC1 repeat expansion disease and to seek and validate digital imaging and molecular biomarkers that aid in diagnosis and serve as outcome measures in future clinical trials of this novel but frequent ataxia with late adult-onset
Detailed Description:
The investigators will perform an international multi-center multi-modal and registry-based standardized prospective Natural History Study NHS in RFC1 repeat expansion disease Participants will be assessed annually Study visits with a standardized clinical examination will apply several clinical rating scales and data will be entered into a clinical database ARCA Registry wwwARCA-registryorg customized to the requirements of this specific study At all study visits patients will be asked to donate biosamples biomaterial collection is optional and participants can elect to participate in sampling of blood urine CSF andor a skin biopsy
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None