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

NCT02840669 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 40

Last updated 2018-12-10

No results posted yet for this study

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.

Conditions

Interventions

PROCEDURE

Cardiac magnetic resonance imaging (CMR)

PROCEDURE

Exercise-stress test

PROCEDURE

Echocardiography (ECHO)

PROCEDURE

Cardiac-related blood studies

Sponsors & Collaborators

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

    collaborator UNKNOWN

  • Adverum Biotechnologies, Inc.

    lead INDUSTRY

Principal Investigators

  • Alexandra Durr, MD, PhD · Groupe Hospitalier Pitié-Salpêtrière, APHP

Study Design

Purpose
DIAGNOSTIC
Masking
NONE
Model
FACTORIAL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-07-31
Primary Completion
2018-06-30
Completion
2018-09-30

Countries

  • France

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02840669 on ClinicalTrials.gov