The Genetic Determinants of Pulmonary Fibrosis

The goal of the study is to find the genes that may play a role in Familial Pulmonary Fibrosis (FPF).

It is supported by the National Heart, Lung, and Blood Institute, National Institutes of Health and conducted at Duke University Medical Center, in collaboration with the National Jewish Research and Medical Center and Vanderbilt University Medical Center.

The goal is to enroll 100 families, with at least 2 members affected by pulmonary fibrosis over the next 5 years.

What is pulmonary fibrosis?

Pulmonary fibrosis (PF) is a form of lung disease that affects the interstitium of the lungs. The interstitium is the tissue wall between the air sacs in the lungs.

There are many types of pulmonary fibrosis depending on its cause.

Pulmonary fibrosis could be:

1. Idiopathic ( unknown cause)
2. Due to environmental or occupational exposures
3. Related to diseases of the immune system
4. Induced by various drugs or radiation treatment
5. Familial

What is familial pulmonary fibrosis?

Familial Pulmonary Fibrosis (FPF) is a form of pulmonary fibrosis which appears to run in families rather than occurring randomly. The manifestations, diagnosis, and treatment for FPF are similar to the idiopathic form.

What is the goal of our study?

Our study is trying to find the cause of familial pulmonary fibrosis. Specifically it will attempt to determine if certain genes are associated with the development of pulmonary fibrosis.

Each participant will be asked to:

1. Have a pulmonary function test (used to determine your lungs ability to absorb oxygen)
2. Have a chest x-ray
3. Submit a blood sample for DNA extraction
4. Complete a questionnaire including a detailed family history.

The only requirement of the study is to have at least 2 family members diagnosed with or suspected of having pulmonary fibrosis.

There is no cost for your participation.

Your participation is voluntary and withdrawal is permitted at any time.

All the collected information is strictly confidential.

Inclusion Criteria

• Families with at least two members of a primary biological family (parent, child, sibling) diagnosed with or suspected of having pulmonary fibrosis
• Age older than 20 years

Exclusion Criteria

• Age younger than 20 years
• Known causes of interstitial lung disease such as drug toxicities, environmental exposures, and collagen vascular diseases
• Known genetic diseases associated with pulmonary fibrosis

Trial Status

Recruitment started in 1998 and is planned to continue through 2005.

Who should families contact to enroll?

Duke University Medical Center

Dr. David Schwartz,
Dr. Momen Wahidi , or
Aretha J. Brodie, RN
Study Coordinator
Call toll free at:
1-877-587-4411

Additional information is available on the DUMC Web site (at www.fpf.duke.edu).

The National Jewish Medical Center

Dr. Kevin Brown, or
Dolly Kervitsky, RN
Call toll free at:

1-800-423-8891 ext#1621

Vanderbilt University Medical Center

Dr. Jim Loyd, or
Cheryl Markin, RN
Call toll free at:
1-888- 898-1550

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