RECRUITING

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

Conditions

Friedreich's Ataxia Cardiomyopathy FRDA Ataxia

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems, as well as diabetes and heart disease. The heart disease manifests as cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO and serum parameters, in the context of the neurological disease. In addition, this study will demonstrate that corneal confocal microscopy (CCM) may also provide a biomarker for FRDA.

Official Title

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

Quick Facts

Study Start:2015-01-15

Study Completion:2025-08

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT02316314

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:12 Years to 50 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT

Inclusion Criteria	Exclusion Criteria
* Males and females, age 12 to 30 * Willing and able to provide informed consent (adolescents will need to provide assent and a parent to provide consent) * Definitive diagnosis of FRDA, based on clinical phenotype and genotype * Left ventricle ejection fraction measured by ECHO of \>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \<35% will not be required to perform the CPET)	* Signs and symptoms of cardiac failure * Moderate to severe atrial or ventricular arrythmias * History of angina pectoris * Implanted pacemaker and/ or defibrillator or any other device that would preclude MRI assessment * Any form of dialysis; Severe or end-stage CKD (CKD 4 or 5, eGFR \< 30 ml/min/1.73 m2) without dialysis; eGFR 30 to 40 ml/min/1.73 m2 without dialysis; Acute kidney injury (If a recent assessment is not available, then a blood test to assess kidney function will be performed prior to cardiac MRI) * Females who are pregnant * Receipt of an investigational drug within 30 days or 5 half-lives, whichever is longer, prior to screening, or active enrollment in an investigational medication or device study * Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia * Clinical history or evidence of Type 1 or Type 2 Diabetes mellitus * Any condition, disorder, or abnormal laboratory test findings at screening which, in the judgment of the investigator, would interfere with the individual's ability to comply with all study requirements, or would require the administration of treatment during the study that could potentially affect the interpretation of the study data, or would place the individual at an unacceptable risk by his/ her participation in the study

Inclusion Criteria

Exclusion Criteria

* Males and females, age 12 to 30
* Willing and able to provide informed consent (adolescents will need to provide assent and a parent to provide consent)
* Definitive diagnosis of FRDA, based on clinical phenotype and genotype
* Left ventricle ejection fraction measured by ECHO of \>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \<35% will not be required to perform the CPET)

* Signs and symptoms of cardiac failure
* Moderate to severe atrial or ventricular arrythmias
* History of angina pectoris
* Implanted pacemaker and/ or defibrillator or any other device that would preclude MRI assessment
* Any form of dialysis; Severe or end-stage CKD (CKD 4 or 5, eGFR \< 30 ml/min/1.73 m2) without dialysis; eGFR 30 to 40 ml/min/1.73 m2 without dialysis; Acute kidney injury (If a recent assessment is not available, then a blood test to assess kidney function will be performed prior to cardiac MRI)
* Females who are pregnant
* Receipt of an investigational drug within 30 days or 5 half-lives, whichever is longer, prior to screening, or active enrollment in an investigational medication or device study
* Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia
* Clinical history or evidence of Type 1 or Type 2 Diabetes mellitus
* Any condition, disorder, or abnormal laboratory test findings at screening which, in the judgment of the investigator, would interfere with the individual's ability to comply with all study requirements, or would require the administration of treatment during the study that could potentially affect the interpretation of the study data, or would place the individual at an unacceptable risk by his/ her participation in the study

Contacts and Locations

Study Contact

Niamh Savage, BS

CONTACT

646-962-5527

nis2049@med.cornell.edu

Madeline Galbraith, BS

CONTACT

646-962-2672

Principal Investigator

Ronald G Crystal, MD

PRINCIPAL_INVESTIGATOR

Weill Medical College of Cornell University

Study Locations (Sites)

Weill Cornell Medicine

New York, New York, 10021

United States

Collaborators and Investigators

Sponsor: Weill Medical College of Cornell University

Ronald G Crystal, MD, PRINCIPAL_INVESTIGATOR, Weill Medical College of Cornell University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-01-15

Study Completion Date2025-08

Study Record Updates

Study Start Date2015-01-15

Study Completion Date2025-08

Terms related to this study

Keywords Provided by Researchers

Friedreich's Ataxia
Cardiomyopathy
FRDA
Ataxia

Additional Relevant MeSH Terms

Friedreich's Ataxia