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Heart and Muscle Metabolism in Barth Syndrome

NCT01625663 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 64

Last updated 2020-06-02

No results posted yet for this study

Summary

Barth syndrome (BTHS) is an X-linked disorder caused by abnormal cardiolipin metabolism and is characterized by skeletal and cardiomyopathy and high mortality rates. Through clinical metabolism and imaging studies and pluripotent stem cell induction and molecular techniques on skin biopsy samples, this project will produce novel translational information regarding the pathogenesis of BTHS, reveal potential targets for interventions and provide unique data regarding nutrient metabolism and abnormal cardiolipin and mitochondrial function. This project has the potential to provide information that could significantly improve morbidity and mortality in children and young adults with BTHS and may have relevance to other non-BTHS related conditions such as aging and adult heart failure.

Conditions

  • Barth Syndrome

Sponsors & Collaborators

Principal Investigators

  • William T Cade, PT, PhD · Washington University School of Medicine

Eligibility

Min Age
8 Years
Max Age
35 Years
Sex
MALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2012-06-30
Primary Completion
2020-03-31
Completion
2020-03-31

Countries

  • United States

Study Locations

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Entities

Companies

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 NCT01625663 on ClinicalTrials.gov