Friedreich's AtaxiaNCT02840669
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
A study testing Cardiac magnetic resonance imaging (CMR), Exercise-stress test and Echocardiography (ECHO) in people with Friedreich's Ataxia, run by Adverum Biotechnologies, Inc. at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Friedreich's Ataxia
- What is being tested?
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test and Echocardiography (ECHO)
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- Jul 2016to Sep 2018
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.
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- 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.
Who cannot join
- 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;
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- 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.
Trial locations and contacts
1 site in 1 country.
About this 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.
- Conditions
- Friedreich's Ataxia
- Being tested
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiography (ECHO), Cardiac-related blood studies
- Keywords
- Cardiomyopathy
- Medical subject headings
- Friedreich Ataxia, Cardiomyopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cardiac magnetic resonance imaging (CMR)Procedure or surgery
Exercise-stress testProcedure or surgery
Echocardiography (ECHO)Procedure or surgery
Cardiac-related blood studiesProcedure or surgery
| Study group | Role | What they receive |
|---|---|---|
| Friedreich's Ataxia | Other | Not described Receives: Procedure: Cardiac magnetic resonance imaging (CMR); Procedure: Exercise-stress test; Procedure: Echocardiography (ECHO); Procedure: Cardiac-related blood studies |
| Healthy Volunteers (Controls) | Other | Not described Receives: Procedure: Cardiac magnetic resonance imaging (CMR); Procedure: Exercise-stress test; Procedure: Echocardiography (ECHO); Procedure: Cardiac-related blood studies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Exercise-stress test
Measured: 2 hours
Cardiac magnetic resonance imaging (CMR)
Measured: 2 hours
Echocardiogram
Measured: 2 hours
Level of cardiac biomarkers in serum
Measured: 30 minutes
Fatigue Severity Scale
Measured: 30 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jul 2016 (estimated)
- Study startJul 2016
- Primary completionJun 2018
- Study completionSep 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich's AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Intervention model
- Factorial
- Masking
- None (open label)
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- Adverum Biotechnologies, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Alexandra Durr, MD, PhD, Principal investigator, Groupe Hospitalier Pitié-Salpêtrière, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02840669
- Sponsor's protocol ID
- CM-FA-101
- Status last verified
- Dec 2018
- First submitted
- 19 Jul 2016
- Last updated
- 10 Dec 2018
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
- ClinicalTrials.gov ID
- NCT02840669
- Acronym / sponsor ID
- CM-FA-101
- Conditions
- Friedreich's Ataxia
- Keywords
- Cardiomyopathy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Adverum Biotechnologies, Inc.Industry (pharma, biotech, devices)
- Study start
- Jul 2016 (actual)
- Primary completion
- Jun 2018 (actual)
- Study completion
- Sep 2018 (actual)
- First posted
- 21 Jul 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Diagnosis
- Intervention model
- Factorial
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Friedreich's Ataxia | Other | Procedure: Cardiac magnetic resonance imaging (CMR), Procedure: Exercise-stress test, Procedure: Echocardiography (ECHO), Procedure: Cardiac-related blood studies |
| Healthy Volunteers (Controls) | Other | Procedure: Cardiac magnetic resonance imaging (CMR), Procedure: Exercise-stress test, Procedure: Echocardiography (ECHO), Procedure: Cardiac-related blood studies |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (11 listed)
- 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;
Key exclusion criteria (20 listed)
- 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;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cardiac magnetic resonance imaging (CMR) | Procedure or surgery | Friedreich's Ataxia, Healthy Volunteers (Controls) |
| Exercise-stress test | Procedure or surgery | Friedreich's Ataxia, Healthy Volunteers (Controls) |
| Echocardiography (ECHO) | Procedure or surgery | Friedreich's Ataxia, Healthy Volunteers (Controls) |
| Cardiac-related blood studies | Procedure or surgery | Friedreich's Ataxia, Healthy Volunteers (Controls) |
Primary outcome
Exercise-stress test
Time frame: 2 hours
Cardiac magnetic resonance imaging (CMR)
Time frame: 2 hours
Echocardiogram
Time frame: 2 hours
Level of cardiac biomarkers in serum
Time frame: 30 minutes
Fatigue Severity Scale
Time frame: 30 minutes
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Dec 2018.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Alexandra Durr, MD, PhD principal investigator
Groupe Hospitalier Pitié-Salpêtrière, APHP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Cardiac magnetic resonance imaging (CMR), Exercise-stress test and Echocardiography (ECHO) in people with Friedreich's Ataxia, run by Adverum Biotechnologies, Inc. at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 20 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Dec 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Exercise-stress test (time frame: 2 hours). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Dec 2018.