Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)
Status: | Recruiting |
---|---|
Conditions: | Gastrointestinal |
Therapuetic Areas: | Gastroenterology |
Healthy: | No |
Age Range: | Any - 25 |
Updated: | 2/21/2018 |
Start Date: | November 2007 |
End Date: | June 2019 |
Contact: | Peg Hill-Callahan, BS, LSW |
Email: | peg.hill-callahan@arborresearch.org |
Phone: | 734-369-9674 |
Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis
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.
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.
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.
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.
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.
We found this trial at
17
sites
1405 Clifton Road NE
Atlanta, Georgia 30322
Atlanta, Georgia 30322
404-785-6000
Principal Investigator: Saul Karpen, MD, PhD
Phone: 404-785-1467
Children's Healthcare of Atlanta Whether treating a toddler in an emergency or supporting a teen...
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4650 Sunset Blvd
Los Angeles, California 90027
Los Angeles, California 90027
(323) 660-2450
Principal Investigator: Kasper Wang, MD
Phone: 323-361-4566
Childrens Hospital Los Angeles Children's Hospital Los Angeles is a 501(c)(3) nonprofit hospital for pediatric...
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South 34th Street
Philadelphia, Pennsylvania 19104
Philadelphia, Pennsylvania 19104
215-590-1000
Principal Investigator: Kathy Loomes, MD
Phone: 215-590-2525
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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201 Presidents Circle
Salt Lake City, Utah 84108
Salt Lake City, Utah 84108
801) 581-7200
Principal Investigator: Stephen Guthery, MD
Phone: 801-585-3616
University of Utah Research is a major component in the life of the U benefiting...
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13123 E 16th Ave
Aurora, Colorado 80045
Aurora, Colorado 80045
(720) 777-1234
Principal Investigator: Ronald J. Sokol, MD
Phone: 720-777-4690
Children's Hospital Colorado At Children's Hospital Colorado, we see more, treat more and heal more...
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225 E Chicago Ave
Chicago, Illinois 60611
Chicago, Illinois 60611
(312) 227-4000
Principal Investigator: Estella Alonso, MD
Phone: 312-227-3523
Ann & Robert H. Lurie Children's Hospital of Chicago Ann & Robert H. Lurie Children
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Cincinnati, Ohio 60190
Principal Investigator: Jorge Bezerra, MD
Phone: 513-636-7818
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Baylor School of Medicine Baylor College of Medicine is a health sciences university that creates...
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705 Riley Hospital Dr
Indianapolis, Indiana 46202
Indianapolis, Indiana 46202
(317) 944-5000
Principal Investigator: Jean Molleston, MD
Phone: 317-944-9605
Riley Hospital for Children Riley Hospital for Children at IU Health is a place of...
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3414 Fifth Avenue
Pittsburgh, Pennsylvania 15213
Pittsburgh, Pennsylvania 15213
Principal Investigator: Robert Squires, MD
Phone: 412-692-7703
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Saint Louis, Missouri 63104
Principal Investigator: Jeff Teckman, MD
Phone: 314-577-5611
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1 Childrens Place
Saint Louis, Missouri 63110
Saint Louis, Missouri 63110
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500 Parnassus Ave
San Francisco, California 94143
San Francisco, California 94143
(415) 476-9000
University of California at San Francisco (UCSF) The leading university exclusively focused on health, UC...
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4800 Sand Point Way NE
Seattle, Washington 98105
Seattle, Washington 98105
(206) 987-2000
Principal Investigator: Karen Murray, MD
Phone: 206-987-1037
Seattle Children's Hospital Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental...
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