SuspendedNot Applicable

Longitudinal Study of Mitochondrial Hepatopathies

United States90 participantsStarted 2010-08-18

Plain-language 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.

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Children and young adults with suspected or documented hepatic RC defector FAO defect from birth to 18 years old (through 18 years).
✓. Both sexes, all races and ethnic groups.
✓. Participants must meet one of the following sets of criteria (A or B):
✓. Clinical Criteria 1 (any one of the following)
✓. Clinical Criteria 2 (any one of the following):
✓. Children and young adults with suspected hepatic RC defect or FAO defect between birth through 18 years but who do not meet clinical inclusion criteria listed above for acute or chronic liver disease or acute liver failure.
✓. Both sexes, all races and ethnic groups.

Exclusion criteria

✕. Inability to comply with the longitudinal follow-up described below.
✕. Failure of a family/patient to sign the informed consent/assent document or the HIPAA authorization form.

What they're measuring

Listing for liver transplant

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable

Liver transplantation

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable

Involvement of other organ systems known to be associated with mitochondrial diseases

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable

Death

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable

Trial details

NCT IDNCT01148550

SponsorArbor Research Collaborative for Health

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2029-05-31

View on ClinicalTrials.gov More Acute Liver Failure trials

Plain-language summary

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Children and young adults with suspected or documented hepatic RC defector FAO defect from birth to 18 years old (through 18 years).
✓. Both sexes, all races and ethnic groups.
✓. Participants must meet one of the following sets of criteria (A or B):
✓. Clinical Criteria 1 (any one of the following)
✓. Clinical Criteria 2 (any one of the following):
✓. Children and young adults with suspected hepatic RC defect or FAO defect between birth through 18 years but who do not meet clinical inclusion criteria listed above for acute or chronic liver disease or acute liver failure.
✓. Both sexes, all races and ethnic groups.

Exclusion criteria

✕. Inability to comply with the longitudinal follow-up described below.
✕. Failure of a family/patient to sign the informed consent/assent document or the HIPAA authorization form.

What they're measuring

Listing for liver transplant

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable

Liver transplantation

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable

Involvement of other organ systems known to be associated with mitochondrial diseases

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable

Death

Timeframe: Measured/assessed at baseline, 6 months, Years 1 through 10, and at time of liver transplant, liver or muscle biopsy or hospitalization for critical illness if applicable