Liver Disease in Cystic Fibrosis Patients

GMS Part B: Genetic Modifiers in Cystic Fibrosis Liver Disease

Protocol Description

The purpose of this study is to examine DNA blood samples from people with cystic fibrosis (CF) to determine if non-CF genes (modifiers) contribute to the development of severe CF liver disease. Identifying genetic modifiers that influence CF liver disease may ultimately lead to a better understanding of CF, which may be useful in developing new screening approaches or treatments. This study will be conducted with approximately 500 participants diagnosed with CF liver disease. This is a multi-center study with 40 participating centers worldwide. Approximately 50 participants will be enrolled at Children’s Hospital of Pittsburgh of UPMC.

Eligibility Criteria

Candidates diagnosed with CF liver disease, including both males and females of all ages, will be enrolled. A sibling of a CF liver disease subject may also be enrolled even if he or she does not currently have liver disease.
Boys: Newborn to adult
Girls: Newborn to adult

A one-time blood sample.
Visits: 1
Duration: 1 visit

Status: Open for Enrollment

Source of Support
Cystic Fibrosis Foundation

Additional Resources
Cystic Fibrosis

Primary Investigator(s)

David M. Orenstein, MD

Contact Information

To get started, please contact either:
Elizabeth Hartigan,MPH, RN, CCRC
Sandy Hurban, RN
Adrienne Horn, RN

Last Update
December 29, 2013
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Last Update
December 29, 2013