Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 18 - 30 |
| Updated: | 9/15/2018 |
| Start Date: | December 2014 |
| End Date: | December 2019 |
Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of
coordination and cardiomyopathy. It is the most common form of inherited ataxia with an
incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage
to the nervous system, resulting in symptoms ranging from gait disturbance to speech
problems, as well as diabetes and heart disease. The heart disease manifests as
cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is
designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO
and serum parameters, in the context of the neurological disease.
coordination and cardiomyopathy. It is the most common form of inherited ataxia with an
incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage
to the nervous system, resulting in symptoms ranging from gait disturbance to speech
problems, as well as diabetes and heart disease. The heart disease manifests as
cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is
designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO
and serum parameters, in the context of the neurological disease.
The focus of this study is to assess cardiac dysfunction in individuals with FRDA using 4
modalities: hand crank exercise, cardiac magnetic resonance (CMR) imaging, echocardiography
(ECHO), and serum measurements of cardiac status, including high sensitivity troponin, a
measure of cardiac myocyte damage; N-terminal prohormone of brain natriuretic peptide
(NT-proBNP), a measure of heart failure; and creatine phosphokinase (CPK), a general measure
of muscle damage. While there have been individual studies of some of these modalities, there
are no studies that correlate these parameters and it is not known which parameters are more
sensitive to cardiac dysfunction. This preliminary study will help define the parameters that
will be most useful in assessing the cardiac involvement in FRDA.
modalities: hand crank exercise, cardiac magnetic resonance (CMR) imaging, echocardiography
(ECHO), and serum measurements of cardiac status, including high sensitivity troponin, a
measure of cardiac myocyte damage; N-terminal prohormone of brain natriuretic peptide
(NT-proBNP), a measure of heart failure; and creatine phosphokinase (CPK), a general measure
of muscle damage. While there have been individual studies of some of these modalities, there
are no studies that correlate these parameters and it is not known which parameters are more
sensitive to cardiac dysfunction. This preliminary study will help define the parameters that
will be most useful in assessing the cardiac involvement in FRDA.
Friedreich's Ataxia
Inclusion Criteria:
- Males and females, age 18 to 30
- Willing and able to provide informed consent
- Definitive diagnosis of FRDA, based on clinical phenotype and genotype
- Ability to complete study parameters
Exclusion Criteria:
- Signs and symptoms of cardiac failure
- Moderate to severe atrial or ventricular arrythmias
- History of angina pectoris
- Inability to undergo MRI
- History of uncontrolled diabetes
- History of abnormal kidney function
- Enrollment in a cardiac clinical trial
- Unable to sit with back support
- Pregnant or nursing females
Normal controls
Inclusion Criteria:
- Ability to complete study parameters
Exclusion Criteria:
- Not deemed in good overall health
- Pregnant or nursing females
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