Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT03437486 |
| Other study ID # |
080780 |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
January 1, 2009 |
| Est. completion date |
April 30, 2025 |
Study information
| Verified date |
December 2023 |
| Source |
Vanderbilt University Medical Center |
| Contact |
Tisra H Fadely, RN |
| Email |
Tisra.h.fadely[@]vumc.org |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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.
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.
Approximately every 2 years, we may contact you to return to Vanderbilt for another round of
blood draw, high resolution CT scan of your lungs, and Pulmonary Function Tests (PFTs). These
tests are repeated to help us understand whether changes in blood, CT scan, or lung function
can predict the development of pulmonary fibrosis in relatives of patients with pulmonary
fibrosis. We expect the follow-up period to last approximately 10 years (from the first study
visit). Subjects will be asked to complete no more than 6 total blood/HRCT/PFT collections.
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.
Genetic Counseling Visit (Optional):
Should you be interested in having a visit with a genetic counselor associated with the
research team, a standard new patient visit with the counselor can be arranged with your
first visit for the study, or at a follow-up visit. The study will pay for one visit with the
genetic counselor, who will provide a standard session that is tailored to your and your
family's history. Some of the information obtained during the visit may be used in this
research study, to help us understand the counselling needs of relatives of patients with
pulmonary fibrosis. The counselor may discuss aspects of clinical care, including clinical
genetic testing. The study will not pay for clinical genetic testing, but the genetic
counselor will discuss when clinicalgenetic testing is appropriate and which family members
are most informative to undergo clinical genetic testing.
Specimen collection, processing, and banking: Each subject will have 40 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.
