Back to resultsA Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Primary Purpose
Friedreich's Ataxia
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Cardiac magnetic resonance imaging (CMR)
Exercise-stress test
Echocardiography (ECHO)
Cardiac-related blood studies
Sponsored by
About this trial
This is an interventional diagnostic trial for Friedreich's Ataxia focused on measuring Cardiomyopathy
Eligibility Criteria
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.
Sites / Locations
- Hôpital Pitié-Salpêtrière, AP-HP
Arms of the Study
Arm 1
Arm 2
Arm Type
Other
Other
Arm Label
Friedreich's Ataxia
Healthy Volunteers (Controls)
Arm Description
Outcomes
Primary Outcome Measures
Exercise-stress test
Cardiac magnetic resonance imaging (CMR)
Echocardiogram
Level of cardiac biomarkers in serum
Fatigue Severity Scale
Secondary Outcome Measures
Full Information
NCT ID
NCT02840669
First Posted
July 19, 2016
Last Updated
December 7, 2018
Sponsor
Adverum Biotechnologies, Inc.
Collaborators
Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.
1. Study Identification
Unique Protocol Identification Number
NCT02840669
Brief Title
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Official Title
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Study Type
Interventional
2. Study Status
Record Verification Date
December 2018
Overall Recruitment Status
Completed
Study Start Date
July 2016 (Actual)
Primary Completion Date
June 2018 (Actual)
Study Completion Date
September 2018 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Adverum Biotechnologies, Inc.
Collaborators
Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.
4. Oversight
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Friedreich's Ataxia
Keywords
Cardiomyopathy
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Factorial Assignment
Masking
None (Open Label)
Enrollment
40 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Friedreich's Ataxia
Arm Type
Other
Arm Title
Healthy Volunteers (Controls)
Arm Type
Other
Intervention Type
Procedure
Intervention Name(s)
Cardiac magnetic resonance imaging (CMR)
Intervention Type
Procedure
Intervention Name(s)
Exercise-stress test
Intervention Type
Procedure
Intervention Name(s)
Echocardiography (ECHO)
Intervention Type
Procedure
Intervention Name(s)
Cardiac-related blood studies
Primary Outcome Measure Information:
Title
Exercise-stress test
Time Frame
2 hours
Title
Cardiac magnetic resonance imaging (CMR)
Time Frame
2 hours
Title
Echocardiogram
Time Frame
2 hours
Title
Level of cardiac biomarkers in serum
Time Frame
30 minutes
Title
Fatigue Severity Scale
Time Frame
30 minutes
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Alexandra Durr, MD, PhD
Organizational Affiliation
Groupe Hospitalier Pitié-Salpêtrière, APHP
Official's Role
Principal Investigator
Facility Information:
Facility Name
Hôpital Pitié-Salpêtrière, AP-HP
City
Paris
ZIP/Postal Code
75013
Country
France
12. IPD Sharing Statement
Learn more about this trial
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
We'll reach out to this number within 24 hrs