- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02316314
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
November 15, 2023 updated by: Weill Medical College of Cornell University
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.
Study Overview
Status
Recruiting
Conditions
Detailed Description
The focus of this study is to assess cardiac dysfunction in individuals with FRDA using 4 modalities: hand crank exercise, cardiac magnetic resonance (CMR) imaging, echocardiography (ECHO), and serum measurements of cardiac status, including high sensitivity troponin, a measure of cardiac myocyte damage; N-terminal prohormone of brain natriuretic peptide (NTproBNP), a measure of heart failure; and creatine phosphokinase (CPK), a general measure of muscle damage.
While there have been individual studies of some of these modalities, there are no studies that correlate these parameters and it is not known which parameters are more sensitive to cardiac dysfunction.
This preliminary study will help define the parameters most useful in assessing the cardiac involvement in FRDA.
In addition, the study will investigate noninvasive tests and procedures that may serve as biomarkers for the neurologic disease.
In other neurological diseases, non-invasive examination of the number and structure of nerve cells in the cornea has been assessed as an indication of disease progression.
Study Type
Observational
Enrollment (Estimated)
100
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Niamh Savage, BS
- Phone Number: 646-962-5527
- Email: nis2049@med.cornell.edu
Study Contact Backup
- Name: Madeline Galbraith, BS
- Phone Number: 646-962-2672
Study Locations
-
-
New York
-
New York, New York, United States, 10021
- Recruiting
- Weill Cornell Medicine
-
Contact:
- Niamh Savage, BS
- Phone Number: 646-962-2672
- Email: nis2049@med.cornell.edu
-
Contact:
- Madeline Galbraith, BS
- Phone Number: 646-962-2672
- Email: meg4013@med.cornell.edu
-
-
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.
Eligibility Criteria
Ages Eligible for Study
12 years to 30 years (Child, Adult)
Accepts Healthy Volunteers
Yes
Sampling Method
Non-Probability Sample
Study Population
The study will be composed of individuals with FRDA and individuals without FRDA.
Individuals without FRDA will be age, gender and ethnicity matched to the individuals with FRDA.
Description
Friedreich's Ataxia - Inclusion 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)
Friedreich's Ataxia - Exclusion Criteria:
- 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
Normal controls - Inclusion 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)
- Matched age, gender and ethnicity to the FRDA group
- Capable of undergoing the various modalities of cardiac assessment
- 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 be withdrawn from the study)
Normal controls - Exclusion Criteria:
- Individuals not deemed in good overall health by the investigator will not be accepted into the study
- Signs and symptoms of cardiac failure
- Moderate to severe atrial or ventricular arrhythmias
- 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 or lactating
- 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 sit with back support
- Unable to undergo cardiac MRI with gadolinium contrast or claustrophobia
- Unable to undergo exercise tests
- 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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Cross-Sectional
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Individuals diagnosed with FRDA
Individuals diagnosed with FRDA, to undergo the cardiac magnetic resonance imaging (CMR), exercise-stress test, echocardiogram (ECHO), and cardiac-related blood studies
|
CMR is a non-invasive way to take a high-resolution image of the heart and vessels.
CMR uses powerful magnets and radio waves to obtain the image.
During the CMR, you will have a substance injected into your vein called "contrast" to get a better picture of the heart.
You will be asked to pedal on a bicycle with your arms to see how much work you can do and how far you can go.
An echocardiogram is an ultrasound of the heart done at rest.
The blood test involves drawing blood from a vein in the arm by placing a needle in it.
The total amount of blood to be drawn for a single visit will be up to 57 mL (12 teaspoons).
|
Healthy controls
Individuals without FRDA, to undergo the cardiac magnetic resonance imaging (CMR), exercise-stress test, echocardiogram (ECHO), and cardiac-related blood studies
|
CMR is a non-invasive way to take a high-resolution image of the heart and vessels.
CMR uses powerful magnets and radio waves to obtain the image.
During the CMR, you will have a substance injected into your vein called "contrast" to get a better picture of the heart.
You will be asked to pedal on a bicycle with your arms to see how much work you can do and how far you can go.
An echocardiogram is an ultrasound of the heart done at rest.
The blood test involves drawing blood from a vein in the arm by placing a needle in it.
The total amount of blood to be drawn for a single visit will be up to 57 mL (12 teaspoons).
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Level of troponin, BNP, and CPK in blood
Time Frame: 30 minutes
|
Average the levels of troponin for each subject
|
30 minutes
|
echocardiogram
Time Frame: 2 hour
|
Evaluate the results of subject's Echo cardiograms
|
2 hour
|
exercise-stress test
Time Frame: 2 hour
|
Evaluate off the results of the exercise-stress test
|
2 hour
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Investigators
- Principal Investigator: Ronald G Crystal, MD, 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 Major Dates
Study Start (Actual)
January 15, 2015
Primary Completion (Estimated)
August 1, 2024
Study Completion (Estimated)
December 1, 2024
Study Registration Dates
First Submitted
November 12, 2014
First Submitted That Met QC Criteria
December 9, 2014
First Posted (Estimated)
December 12, 2014
Study Record Updates
Last Update Posted (Estimated)
November 17, 2023
Last Update Submitted That Met QC Criteria
November 15, 2023
Last Verified
November 1, 2023
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Genetic Diseases, Inborn
- Neurodegenerative Diseases
- Dyskinesias
- Spinal Cord Diseases
- Heredodegenerative Disorders, Nervous System
- Mitochondrial Diseases
- Cerebellar Diseases
- Spinocerebellar Degenerations
- Ataxia
- Cerebellar Ataxia
- Friedreich Ataxia
Other Study ID Numbers
- 1408015429
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
UNDECIDED
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Friedreich's Ataxia
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