Abstract
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 15 sites) will
prospectively collect defined data and specimens in a uniform fashion at fixed intervals in a
relatively large number of subjects. Clinical information and DNA samples to be collected
from subjects and their parents will enhance the potential for meaningful research in these
disorders. A biobank of subject specimens and DNA samples will be established for use in
ancillary studies to be performed in addition to this study.
