Status:

ACTIVE_NOT_RECRUITING

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

Lead Sponsor:

Monash University

Collaborating Sponsors:

University of Minnesota

RWTH Aachen University

Conditions:

Friedreich Ataxia

Eligibility:

All Genders

5+ years

Brief 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 (base...

Detailed Description

Friedreich ataxia (FA) is a multi-system progressive disorder with the most prevalent and prominent symptoms relating to dysfunction in the central and peripheral nervous system, including, loss of ba...

Eligibility Criteria

Inclusion

  • 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

  • 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.

Key Trial Info

Start Date :

February 10 2021

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

October 1 2025

Estimated Enrollment :

300 Patients enrolled

Trial Details

Trial ID

NCT04349514

Start Date

February 10 2021

End Date

October 1 2025

Last Update

November 27 2024

Active Locations (7)

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Page 1 of 2 (7 locations)

1

University of Florida

Gainesville, Florida, United States, 32611

2

Center for Magnetic Resonance Research, University of Minnesota

Minneapolis, Minnesota, United States, 55455

3

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States, 19104

4

Monash Biomedical Imaging, Monash University

Clayton, Victoria, Australia, 3168