Clinical trial NCT05367349: Optimising Screening for Early Disease Detection in Familial Pulmonary Fibrosis
Official title: Optimising Screening for Early Disease Detection in Familial Pulmonary Fibrosis
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pulmonary Fibrosis Idiopathic Familial
Keywords: Pulmonary Fibrosis
Familial
Screening
Asymptomatic
Family members
First-degree
Lead sponsor: St. Antonius Hospital
Sponsor class: OTHER
Collaborators: name: ZonMw: The Netherlands Organisation for Health Research and Development
name: Boehringer Ingelheim
First posted: 2022-05-10
Enrollment: 200
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Asymptomatic first-degree relatives of patients with FPF are invited to enroll.

Brief summary: In this study the prognostic value of the current screening parameters for familial pulmonary fibrosis (FPF) will be investigated by looking at the screenings of 200 first-degree relatives of patients with FPF.

Also insight in the natural history of early FPF, and the necessary interval between screenings visits will be investigated.

Detailed description: Familial pulmonary fibrosis (FPF) is a fatal lung disease that is often not diagnosed until a significant portion of the lung function is lost. Median survival after diagnosis is 3 to 5 years. As treatment can only slow down lung function decline, early disease detection is essential to provide timely therapeutic support. As first-degree relatives of patients with FPF are at high risk of developing pulmonary fibrosis as well, a screening protocol has been put in place. However, the value of current screening parameters to detect early asymptomatic disease as well as the optimal interval between screening appointments are unknown. A prospective study into the prognostic value of these screening markers in the target population and the appropriate clinical setting is needed to develop an evidence-based screening protocol. There will be an emphasis on easily operable parameters that may allow for redirection of (part of the) screening activities to the general practice in the future.

Eligibility criteria: Inclusion Criteria:

* Asymptomatic first-degree relative of patients with familial pulmonary fibrosis (FPF)

Exclusion Criteria:

* A previous diagnosis of interstitial lung disease (ILD)
* Minors (aged \<18 years)
* Pregnant

Note: woman who are pregnant at the start of the study or at the time of the HRCT are not allowed to participate. If a participant gets pregnant at a later stage during the study, she will not be excluded from the study. To be able to account for a potential effect of pregnancy during data analysis, female participants can be asked if they are pregnant at every visit.

Primary outcomes:
measure: Characteristics of participants
timeFrame: Baseline
measure: Forced Vital Capacity (FVC)
timeFrame: Baseline
measure: Haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc)
timeFrame: Baseline
measure: Total lung capacity (TLC)
timeFrame: Baseline
measure: Biomarker levels
timeFrame: Baseline
measure: Oxygen saturation in 6-minute walk test (6MWT)
timeFrame: Baseline
measure: Distance (meters) in 6-minute walk test (6MWT)
timeFrame: Baseline
measure: MUC5B genotype
timeFrame: Baseline
measure: Patient reported cough score
timeFrame: Baseline
measure: Patient reported dyspnea score
timeFrame: Baseline
measure: Clubbing
timeFrame: Baseline
measure: Crackles
timeFrame: Baseline
Secondary outcomes:
measure: Forced Vital Capacity (FVC)
timeFrame: 2 years
measure: Haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc)
timeFrame: 2 years
measure: Total lung capacity (TLC)
timeFrame: 2 years
measure: Biomarker levels
timeFrame: 2 years
measure: Genotype
timeFrame: 2 years
measure: Oxygen saturation in 6-minute walk test (6MWT)
timeFrame: 2 years
measure: Distance (meters) in 6-minute walk test (6MWT)
timeFrame: 2 years
measure: Patient reported cough score
timeFrame: 2 years
measure: Patient reported dyspnea score
timeFrame: 2 years
measure: Digital clubbing
timeFrame: 2 years
measure: Crackles
timeFrame: 2 years
measure: Patient reported fatigue
timeFrame: 2 years
measure: Patient reported health status
timeFrame: 2 years
Other outcomes:
measure: Relatedness
timeFrame: Baseline
measure: Blood count
timeFrame: 2 years
measure: Creatinin
timeFrame: 2 years
measure: Liver function tests
timeFrame: 2 years
measure: Total bilirubin
timeFrame: 2 years
measure: Additional blood based markers
timeFrame: 2 years
Locations:
city: Nieuwegein
country: Netherlands
facility: St Antonius Hospital
Study officials:
References: