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

Friedreich's Ataxia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02840669
• Other study ID #: CM-FA-101
• Status: Completed
• Phase: N/A
• Start date: July 2016
• Est. completion date: September 2018

Study information

• Verified date: December 2018
• Source: Adverum Biotechnologies, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 40
• Est. completion date: September 2018
• Est. primary completion date: June 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Friedreich Ataxia
• Friedreich's Ataxia

Intervention

Procedure:
• Cardiac magnetic resonance imaging (CMR)

• Exercise-stress test

• Echocardiography (ECHO)

• Cardiac-related blood studies

Locations

Country	Name	City	State
France	Hôpital Pitié-Salpêtrière, AP-HP	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Adverum Biotechnologies, Inc.	Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Exercise-stress test		2 hours
Primary	Cardiac magnetic resonance imaging (CMR)		2 hours
Primary	Echocardiogram		2 hours
Primary	Level of cardiac biomarkers in serum		30 minutes
Primary	Fatigue Severity Scale		30 minutes