Clinical trial NCT02497534: Biomarkers in Friedreich's Ataxia
Official title: Biomarkers in Friedreich's Ataxia
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Friedreich's Ataxia
Keywords: ataxia
neuromuscular
Lead sponsor: University of Florida
Sponsor class: OTHER
Collaborators: name: Children's Miracle Network
name: National Institutes of Health (NIH)
name: National Center for Advancing Translational Sciences (NCATS)
First posted: 2015-07-14
Enrollment: 203
Sex: ALL
Minimum age (years): 8
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia

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.

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 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

Primary outcomes:
measure: Cardiac MRI
timeFrame: Baseline and Follow-Up Visits
measure: Echocardiogram
timeFrame: Baseline and Follow-Up Visits
measure: Friedreich's Ataxia Rating Scale (FARS)
timeFrame: Baseline and Follow-Up Visits
measure: Metabolic exercise testing
timeFrame: Baseline and Follow-Up Visits
measure: Scale for the Assessment and Rating of Ataxia (SARA)
timeFrame: Baseline and Follow-Up Visits
measure: Muscle Biopsy
timeFrame: Baseline
measure: Skin Biopsy
timeFrame: Baseline
measure: 9-Hole-Peg Test
timeFrame: Baseline and Follow-Up Visits
measure: Pulmonary Function Testing
timeFrame: Baseline and Follow-Up Visits
Secondary outcomes:
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: University of Florida
state: Florida
Study officials:
affiliation: University of Florida
name: Manuela Corti, PT, PhD
role: PRINCIPAL_INVESTIGATOR
References: