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Diseases

Genetic and Rare Diseases Information Center (GARD)

Barth syndrome


Other Names for this Disease
  • BTHS
  • 3-methylglutaconic aciduria type II
  • MGA type II
  • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
  • TAZ defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Research

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Barth syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • The Barth Syndrome Registry and DNA Bank (BRR) at the University of Florida  is collecting information directly from families and from patient records to build a large anonymized database that is useful for answering scientific research questions and that is a source of medical information.  Additionally, the registry is collecting blood samples for DNA isolation and storage and for the development of special cell lines.
Other Names for this Disease
  • BTHS
  • 3-methylglutaconic aciduria type II
  • MGA type II
  • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
  • TAZ defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.