Longitudinal Study of Mitochondrial Hepatopathies

Summary

The specific aims of this study are (1) to determine the clinical phenotypes and natural history of hepatic RC and FAO disorders, (2) to determine the correlation between genotype and phenotype, (3) to determine if circulating biomarkers reflect diagnosis and predict liver disease progression and survival with the native liver, (4) to determine the clinical outcome of these disorders following liver transplantation, and (5) to develop a repository of serum, plasma, urine, tissue and DNA specimens that will be used in ancillary studies. To accomplish these aims, the ChiLDReN investigators at clinical sites (currently 9 sites) will prospectively collect defined data and specimens in a uniform fashion at fixed intervals in a relatively large number of subjects. Clinical information collected from subjects and their parents will enhance the potential for meaningful research in these disorders. A biobank of previously collected subject specimens and DNA samples will be established for use in ancillary studies to be performed in addition to this study.

Conditions

• Acute Liver Failure
• Mitochondrial Diseases
• End Stage Liver Disease
• Respiratory Chain Deficiencies, Mitochondrial
• Disorder of Fatty Acid Oxidation

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  collaborator NIH

• University of Michigan

  collaborator OTHER

• Arbor Research Collaborative for Health

  lead OTHER

Principal Investigators

• Ronald J Sokol, MD · University of Colorado, Denver

• Ed Doo, MD · National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

• John C Magee, MD · University of Michigan

• Lisa Henn, PhD · Arbor Research Collaborative for Health - Data Coordinating Center

• Katrina Loh, MD · National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Eligibility

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2010-08-18

Primary Completion

2029-05-31

Completion

2029-05-31

Countries

• United States
• Canada

Study Locations