Optimising Screening for Early Disease Detection in Familial Pulmonary Fibrosis
- Conditions
- Pulmonary Fibrosis Idiopathic Familial
- Registration Number
- NCT05367349
- Lead Sponsor
- St. Antonius Hospital
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 200
- Asymptomatic first-degree relative of patients with familial pulmonary fibrosis (FPF)
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Characteristics of participants Baseline 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
MUC5B genotype Baseline Difference in MUC5B genotype (all discrete variables) between the group with ILD changes and the group without ILD changes present on enrollment HRCT
Crackles Baseline Difference in inspiratory crackles during lung auscultation between the group with ILD changes and the group without ILD changes present on enrollment HRCT
Forced Vital Capacity (FVC) Baseline Difference in forced vital capacity (FVC) between the group with ILD changes and the group without ILD changes present on enrollment HRCT
Haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc) Baseline 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
Total lung capacity (TLC) Baseline Difference in total lung capacity (TLC) between the group with ILD changes and the group without ILD changes present on enrollment HRCT
Biomarker levels Baseline 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
Oxygen saturation in 6-minute walk test (6MWT) Baseline 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
Clubbing Baseline Difference in presence of digital clubbing between the group with ILD changes and the group without ILD changes present on enrollment HRCT
Distance (meters) in 6-minute walk test (6MWT) Baseline Difference in distance covered (in meters) between the group with ILD changes and the group without ILD changes present on enrollment HRCT
Patient reported cough score Baseline Difference in visual analogue scale (VAS) for cough (scores between 0-100, with 100 being the worst) between the group with ILD changes and the group without ILD changes present on enrollment HRCT
Patient reported dyspnea score Baseline Difference in medical research council (MRC) (scores between 0-5, with 5 being the worst) between the group with ILD changes and the group without ILD changes present on enrollment HRCT
- Secondary Outcome Measures
Name Time Method Haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc) 2 years 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
Total lung capacity (TLC) 2 years 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
Distance (meters) in 6-minute walk test (6MWT) 2 years 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
Biomarker levels 2 years 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
Genotype 2 years 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
Oxygen saturation in 6-minute walk test (6MWT) 2 years 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
Digital clubbing 2 years 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
Crackles 2 years 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
Patient reported health status 2 years 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
Forced Vital Capacity (FVC) 2 years 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
Patient reported cough score 2 years 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
Patient reported dyspnea score 2 years 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
Patient reported fatigue 2 years 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
Trial Locations
- Locations (1)
St Antonius Hospital
🇳🇱Nieuwegein, Netherlands