Biomarkers in Friedreich's Ataxia

Part of paid clinical trials in Gainesville, Florida.

Sponsor
University of Florida
Study ID
NCT02497534
Status
Recruiting
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Conditions

  • Friedreich's Ataxia

Eligibility Criteria

Sex
ALL
Age
6 Years - 70 Years
Healthy Volunteers
Accepted

Study Details

The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.

Key Dates

Start date
Sep 30, 2015
Status verified
Sep 2025
Primary completion
Jun 3, 2030
Completion
Jun 3, 2030

Study Design

Enrollment
203 participants (estimated)

Arms

  • Arm: Affected with Friedreich's ataxia
    Friedreich's ataxia patients aged 6 to 70 (inclusive). Assessments will include collection of genetic mutation reports, cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing with a recombinant bike and/or hand ergometer, pulmonary function testing, and gait analysis. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.
  • Arm: Healthy controls
    Health controls aged 6 to 70 (inclusive). Assessments will include cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing, hand ergometer for exercise testing, pulmonary function testing, gait analysis, and optional blood draws and/or muscle/skin biopsies
  • Arm: Carriers of Friedreich's ataxia
    An obligate carrier aged 18 to 70 (inclusive) of the abnormal Friedreich's ataxia gene by being a parent of a child with Friedreich's ataxia. No assessments are to be conducted. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.

Primary Outcome Measure

Cardiac MRI [ Time Frame: Baseline and Follow-Up Visits ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of FloridaGainesvilleFlorida32610
Mackenzi Coker, MS, CCC-SLP
[email protected]
352-294-8754
Manuela Corti, PT, PhD (PRINCIPAL_INVESTIGATOR)
Sub Subramony, MD (SUB_INVESTIGATOR)

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