Optimising Screening for Early Disease Detection in Familial Pulmonary Fibrosis

St. Antonius Hospital200 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

Pulmonary Fibrosis Idiopathic Familial

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (1)

St Antonius Hospital

Nieuwegein, Netherlands

RECRUITING

Outcomes

Primary Outcomes

Characteristics of participants

Difference in age, sex, body weight, smoking history and comorbidities between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: Baseline

Forced Vital Capacity (FVC)

Difference in forced vital capacity (FVC) between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: Baseline

Haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc)

Difference in haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc) between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: Baseline

Total lung capacity (TLC)

Difference in total lung capacity (TLC) between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: Baseline

Biomarker levels

Difference in Krebs von den Lungen 6 (KL6), chemokine (C-C motif) ligand 18 (CCL18), surfactant protein-D (SP-D), matrix metalloproteinase 7 (MMP7) between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: Baseline

Oxygen saturation in 6-minute walk test (6MWT)

Difference in oxygen saturation (rest in %), oxygen saturation (after 6MWT in %), oxygen saturation (nadir in %) and oxygen saturation (difference between rest and nadir in %) (all continuous variables) between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: Baseline

Distance (meters) in 6-minute walk test (6MWT)

Central Contacts

Jan Grutters, Prof.

CONTACT

+31883201453 j.grutters@antoniusziekenhuis.nl

Martijn Maus, MD

CONTACT

+31883201467 m.maus@antoniusziekenhuis.nl

Data from ClinicalTrials.gov

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Secondary Outcomes

Forced Vital Capacity (FVC)

Difference in forced vital capacity (FVC) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc)

Difference in haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Total lung capacity (TLC)

Difference in total lung capacity (TLC) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Biomarker levels

Difference in KL6, CCL18, SP-D and MMP7 over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Genotype

Difference in MUC5B genotype over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Oxygen saturation in 6-minute walk test (6MWT)

Difference in oxygen saturation (rest in %), oxygen saturation (after 6MWT in %), oxygen saturation (nadir in %) and oxygen saturation (difference between rest and nadir in %) (all continuous variables) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Distance (meters) in 6-minute walk test (6MWT)

Difference in distance covered (in meters) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Patient reported cough score

Difference in visual analogue scale (VAS) for cough (scores between 0-100, with 100 being the worst) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Patient reported dyspnea score

Difference in medical research council (MRC) (scores between 0-5, with 5 being the worst) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Digital clubbing

Difference in presence of digital clubbing over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Crackles

Difference in inspiratory crackles during lung auscultation over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Patient reported fatigue

Difference in fatigue assessment scale (FAS) (scores range from 10-50, with 50 being the worst) over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years

Patient reported health status

Difference in EuroQol 5D-5L (EQ-5D-5L) (comprises of a score in five levels, level 1-5 with 5 being the worst, and a visual analoque scale ranging from 0-100 with 100 being the best) and the over the course of 2 years in the subjects with presence of ILD changes on enrollment HRCT and also between the group with ILD changes and the group without ILD changes present on enrollment HRCT

Time frame: 2 years