Mechanisms of Familial Pulmonary Fibrosis

NCT03437486 | Recruiting

• 1 other identifier: 080780
• Study Type: observational
• Target: 750
• Locations: 1 country
• Sites: 1

Brief Summary

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

Idiopathic Pulmonary Fibrosis; Familial Pulmonary Fibrosis; Familial Interstitial Pneumonia

Outcome Measures

Primary Outcomes (1)

• clinical diagnosis of interstitial lung disease

  by ATS/ERS criteria

  Until anticipated study completion of 01-30-2030

Study Arms (1)

Familial Pulmonary Fibrosis

Subjects asked to participate in this study will be unaffected family members of patients previously diagnosed with familial interstitial pneumonia (FIP) which is the familial form of idiopathic pulmonary fibrosis (IPF).

Eligibility Criteria

• Age: 40 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Inclusion Criteria: 1\) Bloodline members of an affected individual from a family in which two or more members of a family bloodline are known to have had proven Idiopathic Interstitial Pneumonia (IIP) and who have no known diagnosis of IIP or IPF

You may not qualify if:

• 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).
• Inability to travel to Nashville for 1-2 outpatient visits and/or complete a written or online version of the Interstitial Lung Disease Questionnaire
• 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.
• 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.)
• Thought to be unsuitable for participation in the study in the opinion of the investigator

Sponsors & Collaborators

• Vanderbilt University Medical Center: lead

Study Sites (1)

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood, including DNA, plasma and serum, along with BAL fluid and transbronchial biopsies will be collected and used for biomarker studies.

MeSH Terms

Conditions

Idiopathic Pulmonary Fibrosis

Condition Hierarchy (Ancestors)

Pulmonary Fibrosis; Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases

Study Officials

• Margaret Salisbury, MD

  Vanderbilt University Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Tisra H Fadely, BSN, RN

CONTACT

Tisra.h.fadely@vumc.org

Cheryl Markin, BS

CONTACT

cheryl.markin@vumc.org

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr. Margaret Salisbury

Study Record Dates

• First Submitted: June 16, 2017
• First Posted: February 19, 2018
• Study Start: January 1, 2009
• Primary Completion (Estimated): January 30, 2030
• Study Completion (Estimated): January 30, 2030
• Last Updated: December 31, 2025

Record last verified: 2025-12

Locations

US (1)