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Summary

for people ages up to 25 years (full criteria)
at San Francisco, California and other locations
study started
estimated completion:

Description

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.

Official Title

Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis

Details

Cholestasis is a rare condition that involves a reduction or obstruction of bile flow from the liver to the small intestine. When bile flow is hindered, a waste product pigment called bilirubin can escape into the bloodstream and build up to harmful levels. This may lead to the easily recognizable cholestatic symptoms of jaundice, itching, and impaired growth and eventually to more serious health problems. Four rare genetic liver disorders— ALGS, a-1AT, bile acid synthesis and metabolism defects, and PFIC—account for about 20% to 30% of all infant cases of cholestasis. These four disorders compose a group of related diseases that can cause significant growth problems during childhood, serious liver problems, the need for liver transplantation, and potentially death. More research on these rare liver diseases is necessary to develop a scientific basis for improvement in diagnostic techniques and treatments. Current diagnostic procedures are complex, and the development of simpler diagnostic tests would facilitate early diagnosis and treatment. 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.

Participation in this study will last 10 years and will consist of a baseline visit and five annual follow-up visits. The study will enroll infants through adults 25 years of age who have, or are suspected of having, one of the four genetic cholestatic liver diseases. Individuals who are siblings of a-A1T participants and have underlying disease with no evidence of liver involvement may also be enrolled. Study visits will involve review of clinical information, family history, and any clinically indicated treatments and their outcomes; a physical exam; laboratory tests; and radiologic and imaging evaluations. In addition to these standard of care evaluations, participants will undergo several special research evaluations, including quality of life questionnaires, neurodevelopmental evaluations, hearing exams, DEXA scanning (dual energy x-ray absorptiometry), liver histology studies, and collection of serum, plasma, urine, and blood for DNA or cell lines. Serum, plasma, urine, and blood for DNA or cell lines will also be collected from both biological parents and from affected siblings of participants with a-A1T or ALGS. Genetic testing will be performed using the collected specimens.

Keywords

Liver Diseases Alagille Syndrome Alpha 1-Antitrypsin Deficiency Cholestatic Liver Disease Cholestasis Childhood Diseases Genetic Diseases Bile Acid Synthesis and Metabolism Defects Progressive Familial Intrahepatic Cholestasis Cholestasis, Intrahepatic

Eligibility

You can join if…

Open to people ages up to 25 years

  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

You CAN'T join if...

  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.

Locations

  • University of California at San Francisco (UCSF) in progress, not accepting new patients
    San Francisco, California, 94143, United States
  • Children's Hospital of Los Angeles accepting new patients
    Los Angeles, California, 90027, United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Arbor Research Collaborative for Health
Links
Childhood Liver Disease Research and Education Network (ChiLDREN) website
ID
NCT00571272
Lead Scientist
Philip Rosenthal
Study Type
Observational
Last Updated
September 6, 2017