Cystic fibrosis is a disease that affects many parts of the body, particularly the lungs and
pancreas. The main purpose of this study is to further understand the natural history,
clinical presentation, and genetics of cystic fibrosis.
Patients with cystic fibrosis will be asked to participate in this study by undergoing
standard medical tests and procedures. Patients will have a history taken and have a
physical examination as well as blood tests, and a sweat test (a test for cystic fibrosis of
the pancreas in which electrolytes are measured in collected sweat). Patients may also be
asked to provide samples of urine, stool, and sputum for additional tests. More complicated
procedures such as bronchoscopy or bronchoalveolar lavage may be required for diagnosis,
treatment, or research purposes.
Patients will receive appropriate treatment with antibiotics, pancreatic enzymes, vitamins,
physiotherapy, and other agents. Medications may be given by mouth or injected into a vein.
This study will provide patients with information on the prognosis of the disease as well as
recommendations for management of cystic fibrosis. In addition this study will provide
information to researchers which may be useful in other studies of cystic fibrosis.
This is an omnibus protocol for studying patients with cystic fibrosis and other familial
pulmonary and pancreatic disorders. The main purpose of the study is to expand knowledge of
the natural history, clinical manifestations (phenotypes) and the genetic variants
(genotypes) of cystic fibrosis. A well-characterized population of patients with cystic
fibrosis will be invited to provide appropriate specimens for laboratory research and to
participate in clinical trials of therapeutic agents for cystic fibrosis.
- INCLUSION CRITERIA
Patients and family members with known or suspected CF and related disorders of the
respiratory tract or pancreas as defined by clinical presentation, sweat testing and/or
Willingness of patients, or guardian to give informed consent.
Age less than 4 years.
Concomitant medical, psychiatric or other problems which might complicate interpretation
of studies of CF, or for which we are unable to provide adequate care.