Barth Syndrome Clinical Trial
Official title:
Heart and Skeletal Muscle Metabolism, Energetics and Function in Barth Syndrome
NCT number | NCT01625663 |
Other study ID # | Pro00105474 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | June 2012 |
Est. completion date | March 31, 2020 |
Verified date | May 2020 |
Source | Duke University |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 64 |
Est. completion date | March 31, 2020 |
Est. primary completion date | March 31, 2020 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | Male |
Age group | 8 Years to 35 Years |
Eligibility |
Inclusion Criteria: 1. confirmed diagnosis of BTHS or healthy control 2. age 8-35 years 3. sedentary (physically active less than 2x/wk) 4. stable on medications for = 3 months including ß-blockers, ACE inhibitors, digoxin 5. lives in North America, the UK, Europe, South Africa or other locations feasible for travel to the US Exclusion Criteria: 1. current unstable heart disease 2. diabetes or other known concurrent disease that may affect nutrient metabolism |
Country | Name | City | State |
---|---|---|---|
United States | Washington University | Saint Louis | Missouri |
Lead Sponsor | Collaborator |
---|---|
Duke University | University of Florida |
United States,
Bashir A, Bohnert KL, Reeds DN, Peterson LR, Bittel AJ, de Las Fuentes L, Pacak CA, Byrne BJ, Cade WT. Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome. Physiol Rep. 2017 Feb;5(3). pii: e131 — View Citation
Cade WT, Bohnert KL, Peterson LR, Patterson BW, Bittel AJ, Okunade AL, de Las Fuentes L, Steger-May K, Bashir A, Schweitzer GG, Chacko SK, Wanders RJ, Pacak CA, Byrne BJ, Reeds DN. Blunted fat oxidation upon submaximal exercise is partially compensated by — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Whole-body fatty acid oxidation rate | Whole-body fatty acid oxidation rate will be measured by 13C-labeled fatty acid stable isotope tracer infusion and mass spectrometry | baseline | |
Secondary | whole-body amino acid oxidation rate | whole-body amino acid oxidation rate will be measured by 13C leucine stable isotope tracer infusion and mass spectrometry | baseline | |
Secondary | cardiac energetics | cardiac energetics will be measured by 31P magnetic resonance spectroscopy of the heart | baseline | |
Secondary | skeletal muscle energetics | skeletal muscle energetics will be measured by 31P magnetic resonance spectroscopy | baseline | |
Secondary | Myocardial fatty acid oxidation rate | Myocardial fatty acid oxidation rate will be measured by radio-isotope tracer infusion and PET imaging | baseline | |
Secondary | left ventricular systolic strain | Left ventricular systolic strain will be measured by tissue Doppler echocardiography | baseline |
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