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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT06016946
Registration number
NCT06016946
Ethics application status
Date submitted
18/08/2023
Date registered
30/08/2023
Titles & IDs
Public title
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
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Scientific title
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
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Secondary ID [1]
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1016
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Universal Trial Number (UTN)
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Trial acronym
UNIFAI
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Friedreich Ataxia
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Condition category
Condition code
Neurological
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Other neurological disorders
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Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Neurological
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Neurodegenerative diseases
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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
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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 in modified Friedreich Ataxia Rating Scale (mFARS) Score
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Assessment method [1]
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The modified Friedreich Ataxia Rating Scale (mFARS) is a disease-specific scale that measures progression of neurological effects of FA. The mFARS is a validated and reliable scale; comprised of the neurologic component of the FARS and evaluates bulbar, upper limb, lower limb, and upright stability/gait function. For each item, responses categorize the corresponding neurological finding, and the findings are assigned a score ranging from 0 to 3, 4, or 5 with 0 being normal and higher numbers indicative of greater impairment. The score ranges from 0 to 93. The score will be compared to the previous year annually for up to 25 years.
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Timepoint [1]
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Baseline, Year 1-25
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Primary outcome [2]
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Change in Scale for the Assessment and Rating of Ataxia (SARA) Score
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Assessment method [2]
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The Scale for the Assessment and Rating of Ataxia (SARA) is a semi-quantitative assessment of ataxia, measuring ataxia of upper limb, lower limb, gait, balance and speech. It has eight items: gait, stance, sitting, speech disturbance, finger chase, nose-finger test, fast alternating hand movement, and heel-shin slide. The total score ranges from 0 (no ataxia) to 40 (severe ataxia). The score will be compared to the previous year annually for up to 25 years.
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Timepoint [2]
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Baseline, Year 1-25
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Primary outcome [3]
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Change in FA Activities of Daily Living (ADL) Score
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Assessment method [3]
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The FARS-ADL is a subsection of the FARS questionnaire that assesses activities of daily living, including speech, personal hygiene, feeding, and mobility. Participants rank each category using a scale of 0 (normal) to 4 (severe disability/ inability to carry out activity independently), with lower scores indicative of "normal" function/activity. The score will be compared to the previous year annually for up to 25 years.
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Timepoint [3]
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Baseline, Year 1-25
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Primary outcome [4]
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Change in Upright Stability (US) Score
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Assessment method [4]
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The Upright Stability (US) assessment is part of the neurological examination within the Modified Friedreich Ataxia Rating Scale (mFARS). This component comprises nine items: sitting position, stance with feet apart, stance with feet apart and eyes closed, stance with feet together, stance with feet together and eyes closed, tandem stance, stance with dominant foot, tandem walk, and gait. The score ranges from 0 to 9, with a higher score reflecting poorer upright stability (i.e., greater neurological severity). The score will be compared to the previous year annually for up to 25 years.
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Timepoint [4]
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Baseline, Year 1-25
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Secondary outcome [1]
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Change in 9-hole peg test mean time (seconds)
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Assessment method [1]
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The 9 Hole Peg Test (9HPT) examines finger dexterity and involves placing and removing nine pegs in a pegboard in the quickest possible time. Two consecutive trials of the dominant hand, followed immediately by two consecutive trials of the non-dominant hand, are undertaken. The average time in seconds taken to complete the task, for each of the dominant and non-dominant hand, is calculated. The 9HPT has high intra- and inter-rater reliability and is the most commonly used measure of upper limb function in FA. The score will be compared to the previous year annually for up to 25 years.
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Timepoint [1]
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Baseline, Year 1-25
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Secondary outcome [2]
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Change in Timed walk (25-foot or 8-meter) mean time (seconds)
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Assessment method [2]
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The timed 25-foot/8-meter walk examines upright stability, balance and mobility and involves walking a predetermined distance. Two consecutive trials are undertaken. The average time in seconds taken to complete the task, is calculated. The score will be compared to the previous year annually for up to 25 years.
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Timepoint [2]
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Baseline, Year 1-25
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Secondary outcome [3]
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Change in Speech analysis scores
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Assessment method [3]
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A battery of speech evaluations will be administered and recorded on a laptop for analysis, using Redenlab software. This will include: reading of a phonetically-balanced passage, sustained vowel sound, listing days of the week, repeating syllables, and a monologue task. This will form a measure of dysarthria. Redenlab is a US-Australian speech-testing company, https://redenlab.com. The score will be compared to the previous year annually for up to 25 years.
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Timepoint [3]
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Baseline, Year 1-25
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Secondary outcome [4]
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Change in Ataxia Instrumented Measures (AIMs)clinical severity score
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Assessment method [4]
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The Ataxia Instrumented Measures (AIMs) system consists of three components: 1) the data logger which is either a spoon, cup or pendant each containing sensors, Wi-Fi and processor; 2) algorithms that distinguishes between movements made by control and users with ataxia and grades the severity of ataxia when detected; and 3) ataxia scores presented in a manner that has utility for clinicians (the AIM "score"). This score is continuous and features an ataxia severity threshold which has been established through the process of machine learning and is based on the separation between individuals with ataxia and control participants. Any value below the severity threshold of a specific device is expected for controls/very mild ataxia, and any value beyond is expected for individuals with moderate/severe ataxia. The score will be compared to the previous year annually for up to 25 years.
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Timepoint [4]
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Baseline, Year 1-25
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Secondary outcome [5]
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Change in Lower Contrast Letter Acuity test score
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Assessment method [5]
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Contrast letter acuity for vision will be assessed using back-lit Low-Contrast Sloan Letter Charts (LCSLCs). Participants will sit at an eye distance of 2 metres from the chart. Binocular vision will be assessed using participants' normal corrective lenses where relevant. Participants are required to read each letter on the chart. Three charts will be presented, with three different visual contrast levels: 100% (equivalent to high-contrast visual acuity), 2.5%, and 1.25%. The maximum total score across the three charts (number of letters read correctly) is 240. Scores for each individual chart will also be recorded.
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Timepoint [5]
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Baseline, Year 1-25
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Eligibility
Key inclusion criteria
1. Both males and females of any age
2. Individuals with Friedreich ataxia (FA): Participants that meet genetically confirmed diagnosis of Friedreich ataxia
3. Written informed consent provided
1. Informed consent must be obtained for all participants
2. For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable)
3. Persons who are not legally competent require the informed consent of their legally authorized representative
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Minimum age
No limit
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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
4. Unable or unwilling to provide informed consent
5. Acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study
6. For any reason in the opinion of the investigator, participant would be unlikely or unable to comply with study protocol requirements.
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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
28/06/2023
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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
28/01/2048
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Actual
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Sample size
Target
3000
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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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Murdoch Childrens Research Institute - Parkville
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Recruitment postcode(s) [1]
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3052 - Parkville
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Recruitment outside Australia
Country [1]
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United States of America
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State/province [1]
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California
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United States of America
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Colorado
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United States of America
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Florida
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United States of America
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Georgia
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United States of America
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Iowa
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United States of America
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Ohio
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United States of America
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Pennsylvania
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Country [8]
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United States of America
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State/province [8]
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Tennessee
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Country [9]
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Austria
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State/province [9]
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Innsbruck
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Belgium
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State/province [10]
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Bruxelles
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Brazil
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Campinas
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Canada
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Ontario
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Canada
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State/province [13]
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Quebec
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Czechia
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Praha
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France
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Paris
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France
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Strasbourg
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Germany
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Aachen
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Germany
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Bonn
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Germany
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Munich
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Germany
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Tübingen
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Greece
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Athens
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India
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NCT
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Ireland
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Dublin
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Italy
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Conegliano
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Italy
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Milan
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Italy
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Roma
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Country [27]
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Netherlands
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Nijmegen
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New Zealand
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Auckland
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Spain
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Barcelona
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Spain
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Madrid
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Country [31]
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United Kingdom
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State/province [31]
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London
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Funding & Sponsors
Primary sponsor type
Other
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Name
Friedreich's Ataxia Research Alliance
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Address
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Ethics approval
Ethics application status
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Summary
Brief summary
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia.
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Trial website
https://clinicaltrials.gov/study/NCT06016946
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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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David Lynch, MD
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Address
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Children's Hospital of Philadelphia
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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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Cait Monette
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Address
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Phone
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16513291892
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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/NCT06016946