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Coronary Artery Disease in Patients With Friedreich's Ataxia

NCT04649866 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 7

Last updated 2023-09-08

No results posted yet for this study

Summary

Friedreich's ataxia is a debilitating, inherited disease cause by mutations in a protein called frataxin (FXN). FXN is one of several proteins that controls the production of iron-sulfur clusters, molecules that are essential for energy production in our cells as well as repair of our genetic code embedded in DNA molecules. Friedreich's ataxia (FRDA) and deficiency of FXN results in a nerve disease affecting coordination and a condition called hypertrophic cardiomyopathy (HCM), marked by an abnormal thickening of the heart. Patients with HCM can then develop pulmonary hypertension (PH), a deadly condition of the blood vessels of the lung. While most of the research in FRDA has focused on nerves and heart muscle, alterations in blood vessels of the heart and lung may worsen disease in FRDA. But, the role of FXN in these blood vessels has never been defined.

Investigators pilot data suggest that Frataxin (FXN ) deficiency can control senescence and downstream function in various types of Endothelial cells (ECs), investigators hypothesize that Friedreich's Ataxia (FRDA) patients may demonstrate endothelial cells EC abnormalities throughout the vasculature potentially before overt cardiomyopathy develops.

Conditions

  • Friedreich Ataxia

Interventions

DIAGNOSTIC_TEST

plethysmography

Forearm blood flow (FBF) measurements in both arms will be made using venous occlusion strain-gauge plethysmography prior to the initiation of any intra-arterial infusions. All FBF measurements will be expressed as mL/min per 100-1 mL forearm volume according to prior studies and the Whitney method.1, 2 Resting baseline FBF will be measured at least 30 minutes after venous and arterial catheter placement to ensure that blood flows in the cannulated arms are stabilized. We will measure FBF during the last 2 minutes of each infusion period. Infusions of individual vasoactive medications will occur over a 15-minute interval. There will be a 25-minute washout between vasoactive medications. Cumulative dose response curves will be constructed over 5-minute incremental infusions. We will proceed in the following order: * SNP 0.8, 1.6 and 3.2 mcg/min * ACh 7.5, 15 and 30 mcg/min * Normal saline

Sponsors & Collaborators

  • Friedreich's Ataxia Research Alliance

    collaborator OTHER

  • University of Pittsburgh

    lead OTHER

Principal Investigators

  • Stephen Chan, MD, PhD · University of Pittsburgh

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Max Age
79 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-02-15
Primary Completion
2023-08-01
Completion
2023-09-01

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04649866 on ClinicalTrials.gov