Genetic Modifiers of Cystic Fibrosis

Protocol Description

The purpose of this study is to understand what genes may be responsible for the similarities or differences in severity of lung, sinus, liver or intestinal problems associated with cystic fibrosis (CF) between members of the same family. The underlying cause of CF is change in a gene called CFTR (cystic fibrosis transmembrane conductance regulator), but even people with the same change in the same family may have differences in severity of lung, sinus, liver or intestinal problems. Approximately 140 subjects (including twins, siblings and parents of siblings) will be studied at Children’s Hospital of Pittsburgh of UPMC.

Eligibility Criteria

Eligible participants include twins and siblings of all ages with a diagnosis of cystic fibrosis.
Boys: All ages
Girls: All ages


A blood sample will be taken and participants will be asked to complete a questionnaire regarding family history.
Visits: 1

Status: Open for Enrollment

Source(s) of Support

National Institutes of Health
Cystic Fibrosis Foundation

Primary Investigator

Joseph Pilewski, MD

Contact Information

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