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| ID | Type | Description | Link |
|---|---|---|---|
| UL1TR000064 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| Children's Miracle Network | OTHER |
| National Institutes of Health (NIH) | NIH |
| National Center for Advancing Translational Sciences (NCATS) | NIH |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| Cardiac MRI | Cardiac MRI will be used to characterize cardiac morphology and function. | Baseline and Follow-Up Visits |
| Echocardiogram | Echocardiogram will be used to characterize cardiac morphology and function. | Baseline and Follow-Up Visits |
| Friedreich's Ataxia Rating Scale (FARS) | FARS scores describe specific neurological impairments in FA. | Baseline and Follow-Up Visits |
| Metabolic exercise testing | 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. | Baseline and Follow-Up Visits |
| Scale for the Assessment and Rating of Ataxia (SARA) | Clinical scale assessing impairment levels in cerebellar ataxia | Baseline and Follow-Up Visits |
| Muscle Biopsy | The muscle sample will be used to evaluate Frataxin quantification | Baseline |
| Skin Biopsy | Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops. | Baseline |
| 9-Hole-Peg Test |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Mackenzi Coker, M.S.CCC-SLP | Contact | 352-294-8754 | mcoker@peds.ufl.edu |
| Name | Affiliation | Role |
|---|---|---|
| Manuela Corti, PT, PhD | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Florida | Recruiting | Gainesville | Florida | 32610 | United States |
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| ID | Term |
|---|---|
| D005621 | Friedreich Ataxia |
| D001259 | Ataxia |
| ID | Term |
|---|---|
| D013132 | Spinocerebellar Degenerations |
| D002526 | Cerebellar Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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Assesses upper extremity function and motor coordination.
| Baseline and Follow-Up Visits |
| Pulmonary Function Testing | Breathing tests to assess lung strength and function. | Baseline and Follow-Up Visits |
| D009422 | Nervous System Diseases |
| D013118 | Spinal Cord Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D020820 | Dyskinesias |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |