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

Plain-language summary

This natural history study tracks, using imaging, the changes that develop over time in the brain and spinal cord of people with Friedreich ataxia. It can enroll people aged 5 and older with genetically confirmed Friedreich ataxia (FXN gene) whose disease began at or before age 25, as well as healthy control participants. It is a study without an assigned phase and is currently not recruiting but still ongoing (active, not recruiting).

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Active, not recruiting

Sponsor

Monash University

Intervention

Natural history

Start date

2/10/2021

Estimated completion

10/1/2025

Countries

United States, Australia, Brazil, Canada, Germany

Related genes

Locations

• Gainesville, United States
• Minneapolis, United States
• Philadelphia, United States
• Clayton, Australia
• São Paulo, Brazil
• Montreal, Canada
• Aachen, Germany

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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 neurological condition
* Controls must not have acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study
* Controls must not be siblings of individuals with FA whose carrier status (i.e., confirmed carrier, confirmed non-carrier, or obligate carrier) is unknown.