Friedreich's Ataxia
Conditions
Keywords
ataxia, neuromuscular
Brief 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.
Detailed description
Friedreich's ataxia (FA) is an autosomal recessive disease caused by a mutation in the frataxin gene (FXN). Although rare, FA is the most common form of hereditary ataxia, affecting 1 in every 50,000 people in the United States. Currently, palliative therapies are the only treatment for FA patients. However, current gene therapy efforts in other neuromuscular diseases have positioned the investigator's research program to extend these discoveries and techniques to FA. As new therapies become available for clinical application, it is crucial to identify non-invasive outcomes measures of cardiac and neuromuscular performance with adequate sensitivity to detect the impact of treatments.
Interventions
None listed
Sponsors
Children's Miracle Network
National Institutes of Health (NIH)
National Center for Advancing Translational Sciences (NCATS)
University of Florida
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
6 Years to 70 Years
Healthy volunteers
Yes
Inclusion criteria
* 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
Exclusion criteria
* Presence of unstable heart disease * Receipt of cardiac transplant * Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Cardiac MRI | Baseline and Follow-Up Visits | Cardiac MRI will be used to characterize cardiac morphology and function. |
| Echocardiogram | Baseline and Follow-Up Visits | Echocardiogram will be used to characterize cardiac morphology and function. |
| Friedreich's Ataxia Rating Scale (FARS) | Baseline and Follow-Up Visits | FARS scores describe specific neurological impairments in FA. |
| Metabolic exercise testing | Baseline and Follow-Up Visits | Metabolic exercise testing will be performed on either a recumbent bike or hand ergometer and will measure the maximal amount of exercise the subject is able to perform. |
| Scale for the Assessment and Rating of Ataxia (SARA) | Baseline and Follow-Up Visits | Clinical scale assessing impairment levels in cerebellar ataxia |
| Muscle Biopsy | Baseline | The muscle sample will be used to evaluate Frataxin quantification |
| Skin Biopsy | Baseline | Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops. |
| 9-Hole-Peg Test | Baseline and Follow-Up Visits | Assesses upper extremity function and motor coordination. |
| Pulmonary Function Testing | Baseline and Follow-Up Visits | Breathing tests to assess lung strength and function. |
Countries
United States
Contacts
Primary ContactMackenzi Coker, M.S.CCC-SLP
Outcome results
None listed