Mechanisms of Familial Pulmonary Fibrosis

Description

This a prospective, longitudinal study of first-degree family members of patients diagnosed with familial interstitial pneumonia (FIP). FIP is the familial form of idiopathic pulmonary fibrosis (IPF), which is defined as 2 or more bloodline relatives which have a diagnosis of idiopathic interstitial pneumonia (IIP). The most common form of idiopathic interstitial pneumonia in FIP families is IPF (approximately 70%). The inheritance pattern in FIP is consistent with autosomal dominant inheritance with incomplete penetrance. Therefore, individuals in this study have approximately 50% risk of carrying a disease-associated allele. The causative gene is currently only known approximately 20% of families. The main goal of this longitudinal study is to better establish the natural history of FIP and to identify risk factors for later development of symptomatic disease. The investigators' plan is to follow these at-risk individuals with yearly questionnaires and planned in person 2 year follow-ups through age 75 or until they develop symptomatic FIP.

Conditions

Familial Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Familial Interstitial Pneumonia

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Study Overview

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Study Details

Study overview

This a prospective, longitudinal study of first-degree family members of patients diagnosed with familial interstitial pneumonia (FIP). FIP is the familial form of idiopathic pulmonary fibrosis (IPF), which is defined as 2 or more bloodline relatives which have a diagnosis of idiopathic interstitial pneumonia (IIP). The most common form of idiopathic interstitial pneumonia in FIP families is IPF (approximately 70%). The inheritance pattern in FIP is consistent with autosomal dominant inheritance with incomplete penetrance. Therefore, individuals in this study have approximately 50% risk of carrying a disease-associated allele. The causative gene is currently only known approximately 20% of families. The main goal of this longitudinal study is to better establish the natural history of FIP and to identify risk factors for later development of symptomatic disease. The investigators' plan is to follow these at-risk individuals with yearly questionnaires and planned in person 2 year follow-ups through age 75 or until they develop symptomatic FIP.

Mechanisms of Familial Pulmonary Fibrosis

Mechanisms of Familial Pulmonary Fibrosis

Condition
Familial Pulmonary Fibrosis
Intervention / Treatment

-

Contacts and Locations

Nashville

Vanderbilt University Medical Center, Nashville, Tennessee, United States, 37232

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB).
  • 2. Inability to travel to Nashville for 1-2 outpatient visits and/or complete a written or on line version of the Interstitial Lung Disease Questionnaire
  • 3. Age \< 40 or \>75 years old. If the affected relative was younger than 50 years old at the time of IIP diagnosis, potential subjects between age 18 and 40 years may participate when they are up to 10 years younger than the age at relative's diagnosis.
  • 4. Underlying disease with signs and symptoms that could be confused with IIP or IPF symptoms (i.e., rheumatoid arthritis or other connective tissue diseases, occupational lung disease, chemotherapy, etc.)
  • 5. Thought to be unsuitable for participation in the study in the opinion of the investigator

Ages Eligible for Study

40 Years to 75 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Vanderbilt University Medical Center,

Timothy Blackwell, MD, PRINCIPAL_INVESTIGATOR, Vanderbilt University Medical Center

Study Record Dates

2025-04-30