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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT05177809
Registration number
NCT05177809
Ethics application status
Date submitted
14/12/2021
Date registered
5/01/2022
Titles & IDs
Public title
RFC1 Natural History Study
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Scientific title
RFC1 Natural History Study
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Secondary ID [1]
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RFC1-NHS
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Universal Trial Number (UTN)
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Trial acronym
RFC1-NHS
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Ataxia
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Condition category
Condition code
Neurological
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Other neurological disorders
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Intervention/exposure
Study type
Observational [Patient Registry]
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
Other interventions - Clinical rating scale to measure ataxia disease severity and progression
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.
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.
Other interventions: 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.
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Intervention code [1]
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Other interventions
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up.
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Assessment method [1]
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Severity of ataxia in the RFC1 cohort will be assessed by application of the Scale for the Assessment and Rating of Ataxia (SARA). The total score is calculated as the sum of 8 items, yielding a total score between 0 and 40. Hereby, higher SARA scores indicate more severe disease.
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Timepoint [1]
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24 months
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Secondary outcome [1]
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Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up.
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Assessment method [1]
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Impairment in activities of daily living by ataxia, neuropathy, vestibular impairment or other disease features will be assessed in the RFC1 cohort by application of the Activities of Daily Living part of the Friedreich Ataxia Rating Scale (FARS-ADL). The total score is calculated as the sum of 9 items, yielding a total score between 0 and 36. Hereby, higher FARS-ADL scores indicate more severe functional impairment.
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Timepoint [1]
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24 months
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Secondary outcome [2]
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Charcot-Marie-Tooth Examination Score Version 2 (CMTESv2) from baseline to 2-year follow-up.
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Assessment method [2]
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Severity of neuropathy in the RFC1 cohort will be assessed by application of the Charcot-Marie-Tooth Examination Score Version 2 (CMTESv2). The total score is calculated as the sum of 7 items, yielding a total score between 0 and 28. Hereby, higher CMTESv2 scores indicate more severe neuropathy.
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Timepoint [2]
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24 months
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Secondary outcome [3]
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Nine-Hole Peg Test (9HPT) from baseline to 2-year follow-up.
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Assessment method [3]
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Upper limb function in the RFC1 cohort will be quantified by application of the Nine-Hole Peg Test (9HPT). This performance measure yields the mean duration of 2 trials to complete the task with the dominant and non-dominant hand, respectively, with an upper limit of 5 minutes (300 seconds).
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Timepoint [3]
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24 months
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Eligibility
Key inclusion criteria
* RFC1: genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1
* 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
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Minimum age
18
Years
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
Yes
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Key exclusion criteria
* RFC1: Missing informed consent
* Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
14/12/2021
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
1/12/2025
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Actual
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Sample size
Target
150
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
VIC
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Recruitment hospital [1]
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Department of Neuroscience, Central Clinical School, Monash University - Melbourne
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Recruitment postcode(s) [1]
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3004 - Melbourne
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Recruitment outside Australia
Country [1]
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Brazil
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State/province [1]
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State Of São Paulo
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Country [2]
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France
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State/province [2]
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Strasbourg
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Country [3]
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Germany
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State/province [3]
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Baden-Württemberg
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Country [4]
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Germany
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State/province [4]
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Nordrhein-Westfalen
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Country [5]
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Germany
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State/province [5]
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Schleswig-Holstein
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Country [6]
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Italy
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State/province [6]
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Napoli
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Country [7]
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Italy
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State/province [7]
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Pisa
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Country [8]
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New Zealand
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State/province [8]
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Auckland
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Country [9]
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Turkey
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State/province [9]
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Istanbul
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Funding & Sponsors
Primary sponsor type
Other
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Name
Prof. Dr. Matthis Synofzik
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Address
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Country
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Ethics approval
Ethics application status
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Summary
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.
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Trial website
https://clinicaltrials.gov/study/NCT05177809
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Matthis Synofzik, Prof. Dr.
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Address
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University Hospital Tübingen
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Matthis Synofzik, Prof. Dr.
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Address
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Country
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Phone
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+49 7071 29
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Fax
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Email
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[email protected]
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Contact person for scientific queries
Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Undecided
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No/undecided IPD sharing reason/comment
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What supporting documents are/will be available?
No Supporting Document Provided
Results publications and other study-related documents
No documents have been uploaded by study researchers.
Results not provided in
https://clinicaltrials.gov/study/NCT05177809