Biomarkers in Friedreich's Ataxia
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Friedreich's Ataxia. Basic parameters: 6 years — 70 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Cardiac MRI [Time frame: Baseline and Follow-Up Visits]
- Echocardiogram [Time frame: Baseline and Follow-Up Visits]
- Friedreich's Ataxia Rating Scale (FARS) [Time frame: Baseline and Follow-Up Visits]
- Metabolic exercise testing [Time frame: Baseline and Follow-Up Visits]
- Scale for the Assessment and Rating of Ataxia (SARA) [Time frame: Baseline and Follow-Up Visits]
- Muscle Biopsy [Time frame: Baseline]
- Skin Biopsy [Time frame: Baseline]
- 9-Hole-Peg Test [Time frame: Baseline and Follow-Up Visits]
- Pulmonary Function Testing [Time frame: Baseline and Follow-Up Visits]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
United States · 1 center
- University of Florida — Gainesville
Identifiers
NCT: NCT02497534 · IRB201500369-N · UL1TR000064