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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT05177809




Registration number
NCT05177809
Ethics application status
Date submitted
14/12/2021
Date registered
5/01/2022
Date last updated
15/07/2022

Titles & IDs
Public title
RFC1 Natural History Study
Scientific title
RFC1 Natural History Study
Secondary ID [1] 0 0
RFC1-NHS
Universal Trial Number (UTN)
Trial acronym
RFC1-NHS
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Ataxia 0 0
Condition category
Condition code
Neurological 0 0 0 0
Other neurological disorders

Intervention/exposure
Study type
Observational [Patient Registry]
Patient registry
Target follow-up duration
Target follow-up type
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.
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up.
Timepoint [1] 0 0
24 months
Secondary outcome [1] 0 0
Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up.
Timepoint [1] 0 0
24 months
Secondary outcome [2] 0 0
Charcot-Marie-Tooth Examination Score Version 2 (CMTESv2) from baseline to 2-year follow-up.
Timepoint [2] 0 0
24 months
Secondary outcome [3] 0 0
Nine-Hole Peg Test (9HPT) from baseline to 2-year follow-up.
Timepoint [3] 0 0
24 months

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
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
- RFC1: Missing informed consent

- Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder;
inability to give informed consent

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
14/12/2021
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2025
Actual
Sample size
Target
150
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Department of Neuroscience, Central Clinical School, Monash University - Melbourne
Recruitment postcode(s) [1] 0 0
3004 - Melbourne
Recruitment outside Australia
Country [1] 0 0
Brazil
State/province [1] 0 0
State Of São Paulo
Country [2] 0 0
France
State/province [2] 0 0
Strasbourg
Country [3] 0 0
Germany
State/province [3] 0 0
Baden-Württemberg
Country [4] 0 0
Germany
State/province [4] 0 0
Nordrhein-Westfalen
Country [5] 0 0
Germany
State/province [5] 0 0
Schleswig-Holstein
Country [6] 0 0
Italy
State/province [6] 0 0
Napoli
Country [7] 0 0
Italy
State/province [7] 0 0
Pisa
Country [8] 0 0
New Zealand
State/province [8] 0 0
Auckland
Country [9] 0 0
Turkey
State/province [9] 0 0
Istanbul

Funding & Sponsors
Primary sponsor type
Other
Name
Prof. Dr. Matthis Synofzik
Address
Country

Ethics approval
Ethics application status

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.
Trial website
https://clinicaltrials.gov/ct2/show/NCT05177809
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Matthis Synofzik, Prof. Dr.
Address 0 0
University Hospital Tübingen
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Matthis Synofzik, Prof. Dr.
Address 0 0
Country 0 0
Phone 0 0
+49 7071 29
Fax 0 0
Email 0 0
matthis.synofzik@uni-tuebingen.de
Contact person for scientific queries

No information has been provided regarding IPD availability


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 are available at https://clinicaltrials.gov/ct2/show/NCT05177809