NCT01625663

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
64

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jun 2012

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2012

Completed
18 days until next milestone

First Submitted

Initial submission to the registry

June 19, 2012

Completed
2 days until next milestone

First Posted

Study publicly available on registry

June 21, 2012

Completed
7.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 31, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 31, 2020

Completed
Last Updated

June 2, 2020

Status Verified

May 1, 2020

Enrollment Period

7.8 years

First QC Date

June 19, 2012

Last Update Submit

May 29, 2020

Conditions

Barth Syndrome

Keywords

barth syndromeheart failuremitochondriametabolismamino acid

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (5)

  • whole-body amino acid oxidation rate

    baseline

  • cardiac energetics

    baseline

  • skeletal muscle energetics

    baseline

  • Myocardial fatty acid oxidation rate

    baseline

  • left ventricular systolic strain

    baseline

Study Arms (2)

Barth syndrome

Children (8-17 yrs) and adults (18-35 yrs)

Controls

Children (8-15 yrs) and adults (18-35 yrs)

Eligibility Criteria

Age8 Years - 35 Years
Sexmale
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Children and adults ages 8-35 yrs with Barth syndrome and healthy controls.

You may qualify if:

  • confirmed diagnosis of BTHS or healthy control
  • age 8-35 years
  • sedentary (physically active less than 2x/wk)
  • stable on medications for ≥ 3 months including ß-blockers, ACE inhibitors, digoxin
  • lives in North America, the UK, Europe, South Africa or other locations feasible for travel to the US

You may not qualify if:

  • current unstable heart disease
  • diabetes or other known concurrent disease that may affect nutrient metabolism

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Washington University

St Louis, Missouri, 63110, United States

Location

Related Publications (3)

  • 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 enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome. J Inherit Metab Dis. 2019 May;42(3):480-493. doi: 10.1002/jimd.12094. Epub 2019 Apr 11.

    PMID: 30924938RESULT

  • 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):e13130. doi: 10.14814/phy2.13130.

    PMID: 28196853RESULT

  • Cade WT, Laforest R, Bohnert KL, Reeds DN, Bittel AJ, de las Fuentes L, Bashir A, Woodard PK, Pacak CA, Byrne BJ, Gropler RJ, Peterson LR. Myocardial glucose and fatty acid metabolism is altered and associated with lower cardiac function in young adults with Barth syndrome. J Nucl Cardiol. 2021 Aug;28(4):1649-1659. doi: 10.1007/s12350-019-01933-3. Epub 2019 Nov 8.

    PMID: 31705425DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Serum, skin biopsy, breath, urine

MeSH Terms

Conditions

Barth SyndromeHeart Failure

Condition Hierarchy (Ancestors)

Heart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, X-LinkedGenetic Diseases, InbornLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • William T Cade, PT, PhD

    Washington University School of Medicine

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 19, 2012

First Posted

June 21, 2012

Study Start

June 1, 2012

Primary Completion

March 31, 2020

Study Completion

March 31, 2020

Last Updated

June 2, 2020

Record last verified: 2020-05

Locations

US(1)