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Trial record 14 of 57 for:    Friedreich's Ataxia

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

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ClinicalTrials.gov Identifier: NCT02840669
Recruitment Status : Active, not recruiting
First Posted : July 21, 2016
Last Update Posted : July 11, 2017
Sponsor:
Collaborators:
Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.
Weill Medical College of Cornell University
Information provided by (Responsible Party):
Adverum Biotechnologies, Inc.

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.


Condition or disease Intervention/treatment Phase
Friedreich's Ataxia Procedure: Cardiac magnetic resonance imaging (CMR) Procedure: Exercise-stress test Procedure: Echocardiography (ECHO) Procedure: Cardiac-related blood studies Not Applicable

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 40 participants
Intervention Model: Factorial Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Study Start Date : July 2016
Estimated Primary Completion Date : June 2018
Estimated Study Completion Date : September 2018


Arm Intervention/treatment
Friedreich's Ataxia Procedure: Cardiac magnetic resonance imaging (CMR) Procedure: Exercise-stress test Procedure: Echocardiography (ECHO) Procedure: Cardiac-related blood studies
Healthy Volunteers (Controls) Procedure: Cardiac magnetic resonance imaging (CMR) Procedure: Exercise-stress test Procedure: Echocardiography (ECHO) Procedure: Cardiac-related blood studies



Primary Outcome Measures :
  1. Exercise-stress test [ Time Frame: 2 hours ]
  2. Cardiac magnetic resonance imaging (CMR) [ Time Frame: 2 hours ]
  3. Echocardiogram [ Time Frame: 2 hours ]
  4. Level of cardiac biomarkers in serum [ Time Frame: 30 minutes ]
  5. Fatigue Severity Scale [ Time Frame: 30 minutes ]


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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02840669


Locations
France
Hôpital Pitié-Salpêtrière, AP-HP
Paris, France, 75013
Sponsors and Collaborators
Adverum Biotechnologies, Inc.
Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.
Weill Medical College of Cornell University
Investigators
Principal Investigator: Alexandra Durr, MD, PhD Groupe Hospitalier Pitié-Salpêtrière, APHP

Responsible Party: Adverum Biotechnologies, Inc.
ClinicalTrials.gov Identifier: NCT02840669     History of Changes
Other Study ID Numbers: CM-FA-101
First Posted: July 21, 2016    Key Record Dates
Last Update Posted: July 11, 2017
Last Verified: July 2017

Keywords provided by Adverum Biotechnologies, Inc.:
Cardiomyopathy

Additional relevant MeSH terms:
Ataxia
Cerebellar Ataxia
Friedreich Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases