Active — Not RecruitingNot Applicable

A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)

United States, Australia, Brazil300 participantsStarted 2021-02-10

Plain-language summary

This is a natural history study prospectively investigating neuroimaging markers of disease progression in children and adults with Friedreich ataxia (FA). There will be three assessment periods (baseline, 12 and 24 months). The study will include approximately 200 individuals with FA and 100 matched controls recruited across the six international academic sites. Other assessments will include secondary clinical and cognitive markers, as well as exploratory blood markers.

Who can participate

Age range5 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Age ≥ 5 years * Written informed consent provided * Individuals with FA must have a genetic confirmation of diagnosis and be biallelic for a GAA repeat length \> 55 in intron 1 of FXN and/or have a GAA repeat length \> 55 in intron 1 of FXN in one allele and another type of mutation that is inferred to cause loss of function in the second FXN allele * Individuals with FA must have an age of disease onset ≤ 25 years * Individuals with FA must have a disease duration ≤ 25 years * Individuals with FA must have a Friedreich Ataxia Rating Scale (FARS) Functional staging score of ≤ 5 and total modified FARS (mFARS) score of ≤ 65 on enrolment Exclusion Criteria: * Age \< 5 years * Unable to provide written informed consent * Magnetic resonance contraindications (e.g. pacemaker or other metallic surgical implants) * Presence of metallic dental braces * Pregnancy (ascertained via a question or test as mandated at particular sites) * Individuals with FA must not have acute or ongoing medical or other conditions that, after discussion between the Site Investigator and steering committee, is deemed to interfere with the conduct and assessments of the study * Individuals with FA must not have another neurological condition apart from FA * Individuals with FA must not have other neurologic conditions that, in the opinion of the Site Investigator, would interfere with the conduct and assessments of the study * Controls must not have a diagnosed psychiatric or neurol…

What they're measuring

Baseline dentate nuclei magnetic susceptibility

Timeframe: Baseline

Slope of change in dentate nuclei magnetic susceptibility

Timeframe: Baseline to 24 months

Baseline dentate volume

Timeframe: Baseline

Slope of change in dentate volume

Timeframe: Baseline to 24 months

Baseline total cerebellar volume

Timeframe: Baseline

Slope of change in total cerebellar volume

Timeframe: Baseline to 24 months

Baseline superior cerebellar peduncle volume

Timeframe: Baseline

Slope of change in superior cerebellar peduncle volume

Timeframe: Baseline to 24 months

Trial details

NCT IDNCT04349514

SponsorMonash University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-10

View on ClinicalTrials.gov More Friedreich Ataxia trials

Plain-language summary

Who can participate

Age range5 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Baseline dentate nuclei magnetic susceptibility

Timeframe: Baseline

Slope of change in dentate nuclei magnetic susceptibility

Timeframe: Baseline to 24 months

Baseline dentate volume

Timeframe: Baseline

Slope of change in dentate volume

Timeframe: Baseline to 24 months

Baseline total cerebellar volume

Timeframe: Baseline

Slope of change in total cerebellar volume

Timeframe: Baseline to 24 months

Baseline superior cerebellar peduncle volume

Timeframe: Baseline

Slope of change in superior cerebellar peduncle volume

Timeframe: Baseline to 24 months