Longitudinal Studies in Children with Cholestasis (LOGIC)

The LOGIC study will investigate the natural history and progression of four genetic causes of intrahepatic cholestasis of childhood.

  • Alpha-1 antitrypsin deficiency (A-1AT)
  • Alagille syndrome
  • Progressive familial intrahepatic cholestasis
  • Bile acid synthesis defects

The purpose of this national study is:

  • To determine the clinical phenotype and natural history of each of the four liver diseases during childhood and early adulthood
  • To determine the frequency of poor growth and decreased bone mineral density and its predictors in all four diseases
  • To develop a repository of serum, urine, tissue and DNA specimens that will be used in future ancillary studies to determine circulating biomarkers that predict disease progression and outcomes, and to identify modifier genes
  • To determine genotype-phenotype relationships in
    • Alagille syndrome
    • Progressive familial intrahepatic cholestasis (PFIC)
    • To determine if the natural history and progression of liver disease in alpha-1 antitrypsin deficiency is consistent in a given family with multiply affected children

    Eligibility Criteria

    • Children and young adults diagnosed with one of the four cholestatic diseases from birth to age 25 years
    • Siblings of participants with alpha-1-antitrypsin deficiency or Alagille syndrome, who have alpha-1-antitrypsin deficiency or Alagille syndrome, but no evidence of liver disease
    • Both genders, all races and ethnic groups
    • Participant meets the enrollment criteria for one of the four cholestatic liver diseases
    • Parent/guardian informed written consent
    • Patients may have long-term care coordinated at a center not participating in ChiLDREN