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Trial record 3 of 244 for:    Ataxia

Biomarkers in Friedreich's Ataxia

This study is currently recruiting participants.
Verified September 2017 by University of Florida
Sponsor:
ClinicalTrials.gov Identifier:
NCT02497534
First Posted: July 14, 2015
Last Update Posted: September 11, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborators:
Children's Miracle Network
National Institutes of Health (NIH)
Friedreich's Ataxia Research Alliance
Information provided by (Responsible Party):
University of Florida
  Purpose
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.

Condition
Friedreich's Ataxia

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Biomarkers in Friedreich's Ataxia

Resource links provided by NLM:


Further study details as provided by University of Florida:

Primary Outcome Measures:
  • Cardiac MRI [ Time Frame: Baseline ]
    Cardiac MRI will be used to characterize cardiac morphology and function.

  • Echocardiogram [ Time Frame: Baseline ]
    Echocardiogram will be used to characterize cardiac morphology and function.

  • Friedreich's Ataxia Rating Scale (FARS) [ Time Frame: Baseline ]
    FARS scores describe specific neurological impairments in FA.

  • Goal-directed motor control testing [ Time Frame: Baseline ]
    Goal-directed motor control testing will evaluate position and time error of tasks performed by the upper and lower extremities.

  • Metabolic exercise testing [ Time Frame: Baseline ]
    Metabolic exercise testing will be performed on a recumbent bike and will measure the maximal amount of exercise the subject is able to perform.

  • Isometric motor control testing [ Time Frame: Baseline ]
    Isometric motor control testing will evaluate force and time error of tasks performed by the upper and lower extremities.

  • Scale for the Assessment and Rating of Ataxia (SARA) [ Time Frame: Baseline ]
    Clinical scale assessing impairment levels in cerebellar ataxia

  • Muscle Biopsy [ Time Frame: Baseline ]
    The muscle sample will be used to evaluate Frataxin quantification

  • Skin Biopsy [ Time Frame: Baseline ]
    Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.


Estimated Enrollment: 100
Study Start Date: September 2015
Estimated Study Completion Date: August 2018
Estimated Primary Completion Date: August 2018 (Final data collection date for primary outcome measure)
Groups/Cohorts
Friedreich's ataxia
Friedreich's ataxia patients aged 8 to 70 (inclusive). Assessments will include collection of genetic mutation reports, cardiac MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), and motor control testing.
Healthy controls
Health controls aged 8 to 70 (inclusive). Assessments will include cardiac MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), and motor control testing.

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.
  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Subjects with Friedreich's ataxia OR healthy control subjects.
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 8 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
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02497534


Contacts
Contact: Jessica Bowman 352-294-8754 jbowman1@ufl.edu

Locations
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32610
Contact: Jessica Bowman    352-294-8754    jbowman1@ufl.edu   
Sponsors and Collaborators
University of Florida
Children's Miracle Network
National Institutes of Health (NIH)
Friedreich's Ataxia Research Alliance
Investigators
Principal Investigator: Manuela Corti, PT, PhD University of Florida
  More Information

Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT02497534     History of Changes
Other Study ID Numbers: IRB201500369
UL1TR000064 ( U.S. NIH Grant/Contract )
First Submitted: July 7, 2015
First Posted: July 14, 2015
Last Update Posted: September 11, 2017
Last Verified: September 2017

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University of Florida:
ataxia
neuromuscular

Additional relevant MeSH terms:
Ataxia
Cerebellar Ataxia
Friedreich Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases