Biomarkers in Friedreich's Ataxia

Launched by UNIVERSITY OF FLORIDA · Jul 9, 2015

Keywords

ClinConnect Summary

This clinical trial, titled "Biomarkers in Friedreich's Ataxia," is focused on understanding how Friedreich's ataxia (FA) affects the heart and muscles of patients. Researchers will use advanced methods like echocardiography (an ultrasound of the heart) and MRI (a type of imaging) along with exercise tests to gather important information about these patients' health. They hope to learn more about how FA impacts the body, which could help improve future treatments.

To participate in this study, individuals need to be between the ages of 8 and 70 and have a confirmed genetic diagnosis of Friedreich's ataxia. Healthy volunteers without any neuromuscular disorders are also welcome. Participants should be stable on their heart medications for at least three months before joining and must be able to handle exercise testing. However, those with unstable heart disease or other serious medical conditions may not be eligible. If you join the study, you can expect to undergo various tests that will help researchers gather valuable information about your condition.

Gender

ALL

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