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Sponsors and Collaborators: |
Office of Rare Diseases (ORD) Rare Diseases Clinical Research Network |
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Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00571272 |
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 (AGS), alpha-1 antitrypsin (a-1AT) deficiency, bile acid synthesis and metabolism defects, and progressive familial intrahepatic cholestasis (PFIC). 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.
Condition |
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Liver Diseases Alagille Syndrome Alpha 1-Antitrypsin Deficiency |
Study Type: | Observational |
Study Design: | Cohort, Prospective |
Official Title: | Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis |
Blood plasma and serum samples with DNA
Estimated Enrollment: | 590 |
Study Start Date: | November 2007 |
Estimated Study Completion Date: | June 2013 |
Estimated Primary Completion Date: | June 2013 (Final data collection date for primary outcome measure) |
Groups/Cohorts |
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1
Infants less than 6 months old with a cholestatic liver disease who were initially enrolled into the Biliary Atresia Clincal Research Consortium (BARC) Prospective Biliary Atresia Epidemiology study (PROBE study; P003)
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Participants with a cholestatic liver disease who are between 6 months and 25 years old
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Post-liver transplant participants with a cholestatic liver disease who are between 1 day and 25 years old
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Participants undergoing screening enrollment for a cholestatic liver disease
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Affected siblings of participants with alpha-1 antitrypsin deficiency (a-1AT) or Alagille Syndrome (AGS)
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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— AGS, 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 5 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 and AGS 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, 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 AGS. Genetic testing will be performed using the collected specimens.
Ages Eligible for Study: | up to 25 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
The study population will consist of 200 participants with Alagille sydrome (of which 40 may be siblings of participants), 250 with alpha-1 trypsin deficieny (of which up to 50 may be siblings of participants), 100 with progressive familial intrahepatic cholestasis, and 40 with bile acid synthesis defects.
Inclusion Criteria:
Specific Exclusion Criteria for PFIC Participants:
Specific Exclusion Criteria for Bile Acid Synthesis and Metabolism Defects Participants:
Contact: Elizabeth Esterl, RN, MS, CCRC | 720-777-8430 | esterl.elizabeth@tchden.org |
United States, California | |
University of California at San Francisco (UCSF) | Recruiting |
San Francisco, California, United States, 94143 | |
Contact: Danuta Filipowski, MD 415-476-1756 filipowskid@peds.ucsf.edu | |
Contact: Shannon Fleck 415-476-1539 flecks@peds.ucsf.edu | |
Principal Investigator: Phillip Rosenthal, MD | |
United States, Colorado | |
The Children's Hospital | Recruiting |
Denver, Colorado, United States, 80045 | |
Contact: Elizabeth Esterl, RN, MS, CCRC 720-777-8403 esterl.elizabeth@tchden.org | |
Principal Investigator: Ronald J. Sokol, MD | |
United States, Illinois | |
Children's Memorial Hospital | Recruiting |
Chicago, Illinois, United States, 60614 | |
Contact: Krista Tuzinkiewicz 773-975-8523 ktuzinkiewicz@childrensmemorial.org | |
Contact: Susan M. Kelly, RN, BSN 773-868-8931 skelly@childrensmemorial.org | |
Principal Investigator: Peter Whitington, MD | |
United States, Maryland | |
Johns Hopkins University Hospital | Recruiting |
Baltimore, Maryland, United States, 21287 | |
Contact: Kim Pfeifer 410-614-8583 kfehily@jhmi.edu | |
Contact: Robert Jurao 410-614-1736 rojurao@jhmi.edu | |
Principal Investigator: Kathleen Schwarz, MD | |
United States, Missouri | |
Washington University School of Medicine/St. Louis Children's Hospital | Recruiting |
St. Louis, Missouri, United States, 63110 | |
Contact: Rosemary Nagy, MBA, RD, LD 314-454-2295 nagy_r@kids.wustl.edu | |
Contact: Sandi Guelker, BA 314-454-5174 gueler_s@kids.wustl.edu | |
Principal Investigator: Ross Sheperd, MD | |
St. Louis University | Recruiting |
St. Louis, Missouri, United States, 63110 | |
Contact: Rosemary Nagy, MBA, RD, LD 314-454-2295 nagy_r@kids.wustl.edu | |
Contact: Vikki Kociela, BSN, CCRC 314-577-5608 kocielav@slu.edu | |
Principal Investigator: Jeff Teckman, MD | |
United States, New York | |
Mount Sinai School of Medicine | Recruiting |
New York City, New York, United States, 10029 | |
Contact: Sanobar Parkar, MD, MPH 212-659-8046 sanobar.parkar@msnyuhealth.org | |
Principal Investigator: Frederick Suchy, MD | |
United States, Ohio | |
Cincinnati's Children's Memorial Hospital | Recruiting |
Cincinnati, Ohio, United States, 60190 | |
Contact: Jan Dietz 513-636-7266 jan.dietz@cchmc.org | |
Contact: Susan Krug, MS, CCRC 513-636-7818 | |
Principal Investigator: James Heubi, MD | |
United States, Pennsylvania | |
Children's Hospital of Philadelphia | Recruiting |
Philadelphia, Pennsylvania, United States, 19104 | |
Contact: Jessi Erlichman 215-590-2525 erlichman@email.chop.edu | |
Contact: Kim Hohlweg 267-426-0970 HOHLWEGK@email.chop.edu | |
Principal Investigator: David Piccoli, MD | |
Children's Hospital of Pittsburgh | Recruiting |
Pittsburgh, Pennsylvania, United States, 15213 | |
Contact: Beverly Bernard, CRNP 412-692-5811 beverly.bernard@chp.edu | |
Principal Investigator: David Perlmutter, MD | |
United States, Texas | |
Baylor School of Medicine | Recruiting |
Houston, Texas, United States, 77030 | |
Contact: Kimberly W. Pieplow 832-824-3756 kkw@bcm.edu | |
Contact: Alejandro De La Torre 832-824-3756 atorre@bcm.edu | |
Principal Investigator: Saul Karpen, MD |
Study Chair: | Ronald J. Sokol, MD | University of Colorado Denver School of Medicine |
Responsible Party: | University of Colorado Denver School of Medicine ( Ronald J. Sokol, MD ) |
Study ID Numbers: | RDCRN 6001 |
Study First Received: | December 7, 2007 |
Last Updated: | September 2, 2008 |
ClinicalTrials.gov Identifier: | NCT00571272 |
Health Authority: | United States: Federal Government |
Cholestatic Liver Disease Cholestasis Childhood Diseases |
Genetic Diseases Bile Acid Synthesis and Metabolism Defects Progressive Familial Intrahepatic Cholestasis |
Liver Diseases Cardiovascular Abnormalities Alagille syndrome Cholestasis Disease Progression Cholestasis, Intrahepatic Digestive System Diseases Genetic Diseases, Inborn Alpha 1-Antitrypsin Deficiency |
Bile Duct Diseases Alagille Syndrome Biliary Tract Diseases Alpha 1-antitrypsin deficiency Connective Tissue Diseases Abnormalities, Multiple Congenital Abnormalities Heart Defects, Congenital |
Pathologic Processes Disease Syndrome Cardiovascular Diseases |