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CLiC Cholestatic Liver Disease Consortium

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Clinical Studies

6001: Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis

Status: Recruiting

Summary:

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Background

Cholestasis is a condition in which bile is not flowing properly from the liver to the intestines.  Cholestasis is caused by a number of specific childhood diseases, including the four genetic diseases being addressed by this study.  There are several easily identifiable symptoms of cholestasis in children:

  • Jaundice (yellow eyes or skin) is caused by a build-up of bile in the liver and the body.
  • Itching (pruritus) is one of the main symptom of cholestasis in many patients. The build up of bile in the body causes the itching.
  • Poor growth is a symptom of cholestasis in some children. It is caused by poor intestinal absorption of food, which leads to under-nutrition and vitamin deficiencies.

The four cholestatic liver diseases being studied in CLiC 6001 are:

The purpose of this study is to learn about the natural history and progression of the four cholestatic liver diseases listed above.

About This Study

This will be a five-year longitudinal study, with a “baseline” visit at the time of enrollment and five annual follow-up visits. There will be approximately 590 participants enrolled in this study across all 11 CLiC centers within the United States. Research visits will typically consist of the following (some of these items only happen at the first visit):

  • interviews about the participant’s current health and health history, medications, surgeries and illnesses over the past year
  • physical exam
  • collection of blood and urine
  • questionnaires to measure quality of life
  • interviews about family origins and health history

Some additional procedures may happen only one time over the course of participation in this study. They may include the following:

  • Collection of a stool sample to test for pancreatic function (fecal elastase)
  • An exam of body composition and bone density (a “DEXA” test)
  • An exam of hearing function (audiology)
  • An exam of neurodevelopmental function

Targeted Enrollment

To be eligible to participate, you must:

  • Be literate in English
  • Be birth through 25 years of age
  • Have been diagnosed with one of the four cholestatic liver diseases listed above
  • Be able to complete an annual research visit at one of 11 CLiC centers

You are not eligible to participate if:

  • You are unable to complete the annual research visits

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

  • The Children's Hospital, Denver, CO
    Elizabeth Esterl, RN, MS, CCRC
    CLiC Study Coordinator
    Clinical Director, Clinical Trials Organization
    Phone: 720.777.8430
    E-mail: esterl.elizabeth@tchden.org

  • Children's Memorial Hospital, Chicago, IL
    Krista Tuzinkiewicz
    Clinical Research Coordinator
    Phone: 773.975.8523
    E-mail: ktuzinkiewicz@childrensmemorial.org

    Susan M. Kelly RN, BSN
    Clinical Research Coordinator
    Phone: 773.868.8931
    E-mail: skelly@childrensmemorial.org

  • Washington University School of Medicine/St. Louis Children’s Hospital, St. Louis, MO
    Rosemary Nagy, MBA, RD, LD
    CLiC Study Coordinator
    Phone: 314.454.2295
    E-mail: nagy_r@kids.wustl.edu

    Sandi Guelker, BA
    Clinical Research Study Coordinator
    Phone: 314.454.5174
    E-mail: guelker_s@kids.wustl.edu

  • Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
    Jan Dietz
    Clinical Research Coordinator IV
    Phone: 513.636.7266
    jan.dietz@cchmc.org

    Susan Krug, MS, CCRC
    Sr. Clinical Study Coordinator
    Phone: 513.636.7818

  • Mount Sinai Hospital, New York, NY
    Sanobar Parkar, MD, MPH
    Clinical Research Coordinator
    Phone: 212.659.8046
    sanobar.parkar@msnyuhealth.org

  • Saint Louis University (Alpha-1 only enrollment center), St. Louis, MO
    Vikki Kociela, BSN, CCRC
    Clinical Trials Unit Nurse Manager
    Phone: 314.577.5608
    314.268.2773
    kocielav@slu.edu

  • Johns Hopkins University School of Medicine, Baltimore, MD
    Robert Jurao
    Research Program Coordinator
    Phone: 410.614.1736
    rojurao@jhmi.edu

  • Baylor College of Medicine, Houston, TX
    Kimberly Pieplow
    Clinical Research Coordinator
    Texas Children's Liver Center
    Phone: 832.824.3756
    kkw@bcm.tmc.edu

  • Children's Hospital of Philadelphia, Philadelphia, PA
    Jessi Erlichman
    Research Coordinator
    Phone: 215.590.2525
    erlichman@email.chop.edu

  • Children's Hospital of Pittsburgh, Pittsburgh, PA
    Beverly Bernard, CRNP
    Study Coordinator
    Phone: 412.692.5811
    E-mail: beverly.bernard@chp.edu

  • University of California, San Francisco, CA
    Danusia Filipowski, MD
    Phone: 415.476.1756
    E-mail: filipowskid@peds.ucsf.edu

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