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Trial record 91 of 106 for:    Recruiting, Not yet recruiting, Available Studies | (idiopathic pulmonary fibrosis)

Mechanisms of Familial Pulmonary Fibrosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03437486
Recruitment Status : Recruiting
First Posted : February 19, 2018
Last Update Posted : April 5, 2019
Information provided by (Responsible Party):
Timothy Blackwell, Vanderbilt University Medical Center

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 5 year follow-ups through age 70 or until they develop symptomatic FIP.

Condition or disease
Familial Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonia

Detailed Description:

Potential research subjects will be sent a questionnaire (modified version of the ATS-DLD-78 questionnaire) and study consent form. Individuals with no prior history of lung disease and a dyspnea score of 2 or less will be offered the opportunity to undergo further research evaluation, which will include HRCT scanning, pulmonary function testing (PFTs) and blood draw. Subjects with grade 3 or greater dyspnea or findings of extensive disease on HRCT scan (see below), will be recommended to undergo clinical diagnostic evaluation outside the study. For those subjects that participate in this study, demographic information will be collected and stored in a database, including past medical history, smoking history, medications, and occupational and environmental exposure history.

At 5 year intervals after initial enrollment, subjects without clinical disease will be offered a repeat HRCT scan and PFTs.

Each year after enrollment, the investigators will perform follow-up to ascertain whether subjects have: 1) developed respiratory symptoms consistent with FIP/IPF, 2) undergone additional diagnostic evaluations for lung disease, or 3) begun any new treatments for lung disease. Subjects who have developed respiratory symptoms will be encouraged to seek medical evaluation. For those who have undergone any new diagnostic testing or have been diagnosed with FIP, study coordinators will seek permission to obtain HRCTs, medical records, pulmonary function test results, and lung blocks for evaluation by investigators in this study.

The investigators will use standard criteria established by the ATS/ERS to guide the diagnostic classification of patients who develop FIP. Information will be reviewed by a pathologist, a radiologist, and 3 clinicians. In all cases, the clinicians make the final diagnosis and after reviewing the clinical material (clinical/demographic data and pulmonary physiology), and the radiology and pathology data.

HRCT: A single prone HRCT scan without intravenous contrast will be performed and read by an expert chest radiologist. He will assess the presence, extent, and distribution of areas of ground-glass attenuation, interlobular reticular opacities, irregular thickening of interlobular septa, traction bronchiectasis, and traction bronchiolectasis. The anatomic distribution of each finding will be classified in each lung in one of 4 zones from apex to base (upper, middle, lower, lowest). A score of 0 (absent), 1 (<5%), or 2 (>5% parenchymal involvement) will be given for each descriptor in each lung zone based on visual estimation (total score of 1-16). In addition, HRCT scans will be classified as: 1) normal, 2) abnormal, consistent with early FIP, 3) abnormal, consistent with extensive disease, or 4) abnormal, consistent with other diagnoses. Extensive disease is defined as >5% honeycombing in >2 zones. Other diagnoses could include suspicious lung nodules, extensive emphysema, or other findings requiring clinical referral. Disease progression on HRCT is defined by an increase in the total CT score.

Pulmonary function testing: PFTs will include spirometry, lung volumes, and DLCO.

Specimen collection, processing, and banking: Each subject will have 20 ml blood collected on enrollment and on the day of repeat HRCT. Lymphocytes will be saved for generation of lymphoblastoid cells, DNA isolation, and telomere length analysis. Both serum and plasma will be saved for further studies.

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Study Type : Observational
Estimated Enrollment : 650 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Mechanisms of Familial Pulmonary Fibrosis
Actual Study Start Date : January 1, 2009
Estimated Primary Completion Date : April 30, 2021
Estimated Study Completion Date : April 30, 2021

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).

Primary Outcome Measures :
  1. clinical diagnosis of interstitial lung disease [ Time Frame: Until study completion of 4-30-2021 ]
    by ATS/ERS criteria

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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   40 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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


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
  2. Age 40 to 70 or 5 years younger than the youngest case of FIP in the family.

Exclusion 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 Early Interstitial Lung Disease Questionnaire
  3. Age < 40 or >75 years old not eligible for bronchoscopy and < 18 not eligible for CT
  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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03437486

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Contact: Katrina N Douglas, BA 6153433941

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United States, Tennessee
Vanderbilt University Medical Center Recruiting
Nashville, Tennessee, United States, 37232
Principal Investigator: Timothy Blackwell, MD         
Sponsors and Collaborators
Vanderbilt University Medical Center
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Principal Investigator: Timothy Blackwell, MD Vanderbilt University Medical Center

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Responsible Party: Timothy Blackwell, Professor, Vanderbilt University Medical Center Identifier: NCT03437486     History of Changes
Other Study ID Numbers: 080780
First Posted: February 19, 2018    Key Record Dates
Last Update Posted: April 5, 2019
Last Verified: April 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
Idiopathic Interstitial Pneumonias
Lung Diseases, Interstitial
Pathologic Processes
Lung Diseases
Respiratory Tract Diseases
Respiratory Tract Infections