Biomarkers in Friedreich's Ataxia

• Sponsor: University of Florida (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT02497534
• Collaborator: Children's Miracle Network (Other), National Institutes of Health (NIH) (NIH)
• Enrollment: 203
• Location: 1
• Duration (Months): 81
• Patients Per Site Per Month: 2.5

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Friedreich's Ataxia

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.

Study Design

• Study Type: Observational
• Anticipated Enrollment: 203 participants
• Observational Model: Case-Control
• Time Perspective: Cross-Sectional
• Official Title: Biomarkers in Friedreich's Ataxia
• Study Start Date: Sep 1, 2015
• Anticipated Primary Completion Date: Jun 1, 2022
• Anticipated Study Completion Date: Jun 1, 2022

Arms and Interventions

Arm	Intervention/Treatment
Affected with Friedreich's ataxia Friedreich's ataxia patients aged 8 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 8 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 an optional blood draw.
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.

Outcome Measures

Primary Outcome Measures

1. Cardiac MRI [Baseline and Follow-Up Visits]

   Cardiac MRI will be used to characterize cardiac morphology and function.

2. Echocardiogram [Baseline and Follow-Up Visits]

   Echocardiogram will be used to characterize cardiac morphology and function.

3. Friedreich's Ataxia Rating Scale (FARS) [Baseline and Follow-Up Visits]

   FARS scores describe specific neurological impairments in FA.

4. Metabolic exercise testing [Baseline and Follow-Up Visits]

   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.

5. Scale for the Assessment and Rating of Ataxia (SARA) [Baseline and Follow-Up Visits]

   Clinical scale assessing impairment levels in cerebellar ataxia

6. Muscle Biopsy [Baseline]

   The muscle sample will be used to evaluate Frataxin quantification

7. Skin Biopsy [Baseline]

   Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.

8. 9-Hole-Peg Test [Baseline and Follow-Up Visits]

   Assesses upper extremity function and motor coordination.

9. Pulmonary Function Testing [Baseline and Follow-Up Visits]

   Breathing tests to assess lung strength and function.

Eligibility Criteria

Criteria

• Ages Eligible for Study: 8 Years to 70 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

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

Locations

	Site	City	State	Country	Postal Code
1	University of Florida	Gainesville	Florida	United States	32610

Sponsors and Collaborators

• University of Florida
• Children's Miracle Network
• National Institutes of Health (NIH)

Investigators

• Principal Investigator: Manuela Corti, PT, PhD, University of Florida

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: University of Florida
• ClinicalTrials.gov Identifier: NCT02497534
• Other Study ID Numbers: IRB201500369-N; UL1TR000064
• First Posted: Jul 14, 2015
• Last Update Posted: Apr 26, 2022
• Last Verified: Apr 1, 2022

• 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

Study Results

No Results Posted as of Apr 26, 2022