A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)

Not Applicable

Completed

• Conditions: Friedreich's Ataxia
• Interventions: Procedure: Cardiac magnetic resonance imaging (CMR); Procedure: Exercise-stress test; Procedure: Echocardiography (ECHO); Procedure: Cardiac-related blood studies

• Registration Number: NCT02840669
• Lead Sponsor: Adverum Biotechnologies, Inc.

Brief Summary

Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects \~60% of FA patients, mostly young adults, and leads to cardiac failure then death. Currently, no therapy can change the course of this severe cardiomyopathy.

This study is designed to characterize the cardiac manifestations of FA using cardiac magnetic resonance (CMR), echocardiography, serum cardiac biomarkers and evaluation of fatigue severity, in the context of the neurological disease.

Detailed Description

Not available

Study Timeline

• Study Start: 2016-07
• Study First Submitted: 2016-07-19
• Study First Submitted QC: 2016-07-19
• Study First Posted: 2016-07-21
• Primary Completion: 2018-06
• Study Completion: 2018-09
• Status Verified: 2018-12
• Last Update Submitted: 2018-12-07
• Last Update Posted: 2018-12-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: FACTORIAL

Arm && Interventions

Group	Intervention	Description
Healthy Volunteers (Controls)	Cardiac magnetic resonance imaging (CMR)	-
Friedreich's Ataxia	Cardiac magnetic resonance imaging (CMR)	-
Friedreich's Ataxia	Exercise-stress test	-
Friedreich's Ataxia	Echocardiography (ECHO)	-
Friedreich's Ataxia	Cardiac-related blood studies	-
Healthy Volunteers (Controls)	Echocardiography (ECHO)	-
Healthy Volunteers (Controls)	Cardiac-related blood studies	-
Healthy Volunteers (Controls)	Exercise-stress test	-

Primary Outcome Measures

Name	Time	Method
Echocardiogram	2 hours
Level of cardiac biomarkers in serum	30 minutes
Fatigue Severity Scale	30 minutes
Exercise-stress test	2 hours
Cardiac magnetic resonance imaging (CMR)	2 hours

Trial Locations

Locations (1)

Hôpital Pitié-Salpêtrière, AP-HP; 🇫🇷 Paris, France