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

NCT ID: NCT02840669

Last Updated: 2018-12-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

40 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-07-31

Study Completion Date

2018-09-30

Brief Summary

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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

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Conditions

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Friedreich's Ataxia

Keywords

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Cardiomyopathy

Study Design

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Intervention Model

FACTORIAL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Friedreich's Ataxia

Group Type OTHER

Cardiac magnetic resonance imaging (CMR)

Intervention Type PROCEDURE

Exercise-stress test

Intervention Type PROCEDURE

Echocardiography (ECHO)

Intervention Type PROCEDURE

Cardiac-related blood studies

Intervention Type PROCEDURE

Healthy Volunteers (Controls)

Group Type OTHER

Cardiac magnetic resonance imaging (CMR)

Intervention Type PROCEDURE

Exercise-stress test

Intervention Type PROCEDURE

Echocardiography (ECHO)

Intervention Type PROCEDURE

Cardiac-related blood studies

Intervention Type PROCEDURE

Interventions

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Cardiac magnetic resonance imaging (CMR)

Intervention Type PROCEDURE

Exercise-stress test

Intervention Type PROCEDURE

Echocardiography (ECHO)

Intervention Type PROCEDURE

Cardiac-related blood studies

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* 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.


* 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

* 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.


* 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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.

UNKNOWN

Sponsor Role collaborator

Adverum Biotechnologies, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Alexandra Durr, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Groupe Hospitalier Pitié-Salpêtrière, APHP

Locations

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Hôpital Pitié-Salpêtrière, AP-HP

Paris, , France

Site Status

Countries

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France

Other Identifiers

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CM-FA-101

Identifier Type: -

Identifier Source: org_study_id