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Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)

Information source: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
ClinicalTrials.gov processed this data on August 23, 2015
Link to the current ClinicalTrials.gov record.

Condition(s) targeted: Liver Diseases; Alagille Syndrome; Alpha 1-Antitrypsin Deficiency

Phase: N/A

Status: Recruiting

Sponsored by: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Official(s) and/or principal investigator(s):
Kathy Loomes, MD, Study Chair, Affiliation: Children's Hospital of Philadelphia
Ed Doo, MD, Study Director, Affiliation: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
John Magee, MD, Principal Investigator, Affiliation: University of Michigan
Robert Merion, MD, Principal Investigator, Affiliation: Arbor Research Collaborative for Health

Overall contact:
Terese Howell, BS, CCRC, Phone: 734 369-9683, Email: thowell@umich.edu

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.

Clinical Details

Official title: Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis

Study design: Observational Model: Cohort, Time Perspective: Prospective

Primary outcome: Demonstration of disease progression for each of the four cholestatic liver diseases of the study, including liver transplantation, death, growth failure, worsening liver function, and developmental complications of portal high blood pressure

Secondary outcome:

Jaundice (total serum bilirubin of greater than 2.0 mg/dl)

Listing for liver transplantation

Calculated Pediatric End-Stage Liver Disease (PELD) score for participants less than 12 years of age or Model for End-Stage Liver Disease (MELD) score for participants 12 years of age or older

Health related quality of life

Growth (length and weight Z-score)

Bone mineral density (lumbar and spine total body)

Presence of hearing loss (ALGS and PFIC)

Detailed description: 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 aparticipants 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.

Eligibility

Minimum age: N/A. Maximum age: 25 Years. Gender(s): Both.

Criteria:

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.

Locations and Contacts

Terese Howell, BS, CCRC, Phone: 734 369-9683, Email: thowell@umich.edu

Children's Hospital of Los Angeles, Los Angeles, California 90027, United States; Recruiting
Catherine Goodhue, CPNP, Phone: 323-361-4566, Email: cgoodhue@chla.usc.edu
Kasper Wang, MD, Principal Investigator
Nanda Kerker, MD, Sub-Investigator
Sonia Michail, MD, Sub-Investigator
Danny Thomas, MD, Sub-Investigator

University of California at San Francisco (UCSF), San Francisco, California 94143, United States; Active, not recruiting

Children's Hospital Colorado, Aurora, Colorado 80045, United States; Recruiting
Michelle Hite, Phone: 720-777-4690, Email: michelle.hite@childrenscolorado.org
Todd Miller, Phone: 720-777-5304, Email: todd.miller@childrenscolorado.org
Ronald J. Sokol, MD, Principal Investigator
Cara Mack, MD, Sub-Investigator
Michael Narkewicz, MD, Sub-Investigator
Frederick Suchy, MD, Sub-Investigator
Shikha Sundaram, MD, Sub-Investigator

Children's Healthcare of Atlanta, Atlanta, Georgia 30322, United States; Recruiting
Rita Tory, Phone: 404-785-1467, Email: rita.tory@choa.org
Dana Hankerson-Dyson, Phone: 404-785-6027, Email: dana.hankerson-dyson@choa.org
Saul Karpen, MD, PhD, Principal Investigator
Nitika Gupta, MD, Sub-Investigator
Rene Romero, MD, Sub-Investigator
Miriam Vos, MD, MSPH, Sub-Investigator

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, United States; Recruiting
Elizabeth Kaurs, Phone: 312-227-4558, Email: ekaurs@luriechildrens.org
Susan M. Kelly, RN, BSN, Phone: 312-227-3523, Email: skelly@luriechildrens.org
Peter Whitington, MD, Principal Investigator
Estella Alonso, MD, Sub-Investigator
Lee Bass, MD, Sub-Investigator

Riley Hospital for Children, Indianapolis, Indiana 46202, United States; Recruiting
Ann Klipsch, RN, Phone: 317-944-9605, Email: aeye@iupui.edu
Cindy Sawyers, Phone: 317-944-1421, Email: clsawyer@iupui.edu
Jean Molleston, MD, Principal Investigator
Molly Bozic, MD, Sub-Investigator

Johns Hopkins University Hospital, Baltimore, Maryland 21287, United States; Completed

St. Louis University - Cardinal Glennon Children's Medical Center, St. Louis, Missouri 631104, United States; Recruiting
Vikki Kociela, BSN, CCRC, Phone: 314-577-5608, Email: kocielav@slu.edu
Jeff Teckman, MD, Principal Investigator

Washington University School of Medicine/St. Louis Children's Hospital, St. Louis, Missouri 63110, United States; Completed

Mount Sinai School of Medicine, New York City, New York 10029, United States; Completed

Cincinnati's Children's Memorial Hospital, Cincinnati, Ohio 60190, United States; Recruiting
Julie Denlinger, Phone: 513-636-7818, Email: julie.denlinger@cchmc.org
Andrea Ferris, Phone: 513-803-0675, Email: andrea.ferris@cchmc.org
Jorge Bezerra, MD, Principal Investigator
James Heubi, MD, Sub-Investigator
Alexander Miethke, MD, Sub-Investigator
Joseph Palermo, MD, Sub-Investigator

The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Recruiting
Claudia Quammie, Phone: 416-813-7654, Ext: 201594, Email: claudia.quammie@sickkids.ca
Kesley Hunt, Phone: 416-813-7654, Ext: 201594, Email: kelsey.hunt@sickkids.ca
Vicky Ng, MD, Sub-Investigator
Binita Kamath, MD, Principal Investigator

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States; Recruiting
Jessi Erlichman, Phone: 215-590-2525, Email: erlichman@email.chop.edu
Lindsay Brown, Phone: 267-426-0970, Email: brownL7@email.chop.edu
Kathy Loomes, MD, Principal Investigator
David Piccoli, MD, Sub-Investigator
Elizabeth Rand, MD, Sub-Investigator

Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania 15213, United States; Recruiting
Kathryn Bukauskas, RN, Phone: 412-692-7703, Email: kathryn.bukauskas@chp.edu
Madeline Schulte, Phone: 412-692-5811, Email: madeline.schulte@chp.edu
Benjamin Shneider, MD, Principal Investigator
Robert Squires, MD, Sub-Investigator
Veena Venkat, MD, Sub-Investigator

Baylor School of Medicine, Houston, Texas 77030, United States; Active, not recruiting

Seattle Children's Hospital, Seattle, Washington 98105, United States; Recruiting
Melissa Young, Phone: 206-987-1037, Email: melissa.young@seattlechildrens.org
Kara Cooper, Phone: 206-987-4636, Email: kara.cooper@seattlechildrens.org
Karen Murray, MD, Principal Investigator
Simon Horslen, MD, Sub-Investigator
Evelyn Shu, MD, Sub-Investigator

Additional Information

Childhood Liver Disease Research and Education Network (ChiLDREN) website

Starting date: November 2007
Last updated: April 15, 2015

Page last updated: August 23, 2015

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