Biomarkers in Friedreich's Ataxia
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 6
Maximum Age: 70
Healthy Volunteers: t
View:
• Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder
• Between the ages of 6 and 70 (inclusive)
• Are able to tolerate metabolic exercise testing
• Are stable on cardiac medication regimen for 3 months prior to screening
Locations
United States
Florida
University of Florida
RECRUITING
Gainesville
Contact Information
Primary
Mackenzi Coker, M.S.CCC-SLP
mcoker@peds.ufl.edu
352-294-8754
Time Frame
Start Date: 2015-09
Estimated Completion Date: 2030-06-03
Participants
Target number of participants: 203
Treatments
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.
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
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.
Related Therapeutic Areas
Sponsors
Leads: University of Florida
Collaborators: National Center for Advancing Translational Sciences (NCATS), Children's Miracle Network, National Institutes of Health (NIH)