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

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.

Study Overview

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

• Study Type: Interventional
• Enrollment (Actual): 40
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75013
    • Hôpital Pitié-Salpêtrière, AP-HP

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria (Friedreich's Ataxia):

• Males and females;
• ≥ 18 years old;
• Willing and able to provide informed consent;
• Definitive diagnosis of FA, based on clinical phenotype and genotype;
• With a hypertrophic cardiomyopathy;
• Ability to complete study assessments.

Exclusion Criteria (Friedreich's Ataxia):

• Symptoms of cardiac failure;
• Moderate to severe atrial or ventricular arrhythmias;
• History of angina pectoris;
• Inability to undergo cardiac MRI;
• Clinical history or evidence of diabetes;
• Abnormal kidney function;
• Females who are pregnant or nursing;
• Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;
• Inability to sit with back support;
• Inability to undergo exercise test;
• Inability to comply with all study requirements;
• Unaffiliated to any French health insurance or equivalent.

Inclusion Criteria (Healthy Volunteers):

• Healthy males and females;
• ≥ 18 years old;
• Willing and able to provide informed consent;
• Age and gender matched to the Friedreich's Ataxia group;
• Ability to complete study assessments.

Exclusion Criteria (Healthy Volunteers):

• Inability to undergo cardiac MRI;
• Clinical history or evidence of diabetes;
• Abnormal kidney function;
• Females who are pregnant or nursing;
• Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;
• Inability to undergo exercise test;
• Inability to comply with all study requirements;
• Unaffiliated to any French health insurance or equivalent.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Interventional Model: Factorial Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Friedreich's Ataxia	Procedure: Cardiac magnetic resonance imaging (CMR); Procedure: Exercise-stress test; Procedure: Echocardiography (ECHO); Procedure: Cardiac-related blood studies
Other: Healthy Volunteers (Controls)	Procedure: Cardiac magnetic resonance imaging (CMR); Procedure: Exercise-stress test; Procedure: Echocardiography (ECHO); Procedure: Cardiac-related blood studies

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Adverum Biotechnologies, Inc.
• Collaborators: Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.
• Investigators: Principal Investigator: Alexandra Durr, MD, PhD, Groupe Hospitalier Pitié-Salpêtrière, APHP

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2016
• Primary Completion (Actual): June 1, 2018
• Study Completion (Actual): September 1, 2018

Study Registration Dates

• First Submitted: July 19, 2016
• First Submitted That Met QC Criteria: July 19, 2016
• First Posted (Estimate): July 21, 2016

Study Record Updates

• Last Update Posted (Actual): December 10, 2018
• Last Update Submitted That Met QC Criteria: December 7, 2018
• Last Verified: December 1, 2018

More Information

Terms related to this study

• Keywords: Cardiomyopathy
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neurodegenerative Diseases; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Ataxia; Cerebellar Ataxia; Friedreich Ataxia
• Other Study ID Numbers: CM-FA-101