Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)

ID#: NCT00571272

Age: Birth - 25 years

Gender: All

Healthy Subjects: No

Recruitment Status: Recruiting

Start Date: November 01, 2007

End Date: May 01, 2024

Contact Information:
Terese A Howell, BS, CCRC
Sayori Suda-Wilson, BS, RD
Summary: Cholestasis is a condition in which bile is not properly transported from the liver to the small intestine. Cholestasis can be caused by an array of childhood diseases, including the genetic diseases Alagille syndrome (ALGS), alpha-1 antitrypsin (a-1AT) deficiency, bile acid synthesis and metabolism defects, and progressive familial intrahepatic cholestasis (PFIC) or benign recurrent intrahepatic cholestasis(BRIC). This study will investigate the natural history and progression of the four previously mentioned cholestatic liver diseases to provide a better understanding of the causes and effects of the diseases.

Inclusion Criteria:

1. Children and young adults diagnosed with one of the four cholestatic diseases from birth through 25 years old.

2. Siblings of participants with alpha-1-antitrypsin deficiency, who themselves have alpha-1-antitrypsin deficiency of liver disease.

3. Both genders, all races and ethnic groups

4. Participant meets the enrollment criteria for one of the four cholestatic liver diseases

Exclusion Criteria:

1. Inability to comply with the longitudinal follow-up described below, or

2. Failure of a family/patient to sign the informed consent document or the HIPAA medical record release form.