Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP)

Recruiting
18 years or below
All
Phase N/A
1 Location

Brief description of study

The purpose of this study is to help researchers learn more about these rare liver diseases that occur in infants, children, and young adults.

Detailed description of study

The purpose of this study is to help researchers learn more about these rare liver diseases that occur in infants, children, and young adults.

Participants will be paid for their participation.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Mitochondrial Hepatopathies,Liver Disease,Liver,Hepatic,Mitochondrial,Mitochondria
  • Age: 18 years or below
  • Gender: All

Inclusion Criteria
Children ages 0-18yo with suspected or documented hepatic respiratory chain or fatty acid oxidation defects
Children with suspected mitochondrial disease and evidence of acute or chronic liver disease and evidence of at least one of the following: extrahepatic disease, lactic acidosis, hypoglycemia, abnormal acylcarnitine profile, or documented biochemical enzymatic or genetic diagnosis.
Children with suspected mitochondrial disease who have undergone liver transplantation and who have evidence of at least one of the following: extrahepatic disease, lactic acidosis, hypoglycemia, abnormal acylcarnitine profile, or documented biochemical enyzmatic or genetic diagnosis.
Children with suspected mitochondrial liver disease who do not yet meet above criteria.
Exclusion Criteria
Inability to comply with the longitudinal follow-up
Failure of family to sign consent/assent or HIPAA authorization form
Known medium Chain Acyl CoA Dehydrogenase Deficiency
Other known causes of liver disease

Updated on 04 Aug 2024. Study ID: 1011003513

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