Optimising Screening for Early Disease Detection in Familial Pulmonary Fibrosis

NCT05367349 | Unknown

• 1 other identifier: NL75303.100.20
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Pulmonary Fibrosis Idiopathic Familial

Keywords

Pulmonary Fibrosis; Familial; Screening; Asymptomatic; Family members; First-degree

Outcome Measures

Primary Outcomes (12)

• 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

  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

  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

  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

  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

  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

  Baseline

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

  Difference in distance covered (in meters) between the group with ILD changes and the group without ILD changes present on enrollment HRCT

  Baseline

• MUC5B genotype

  Difference in MUC5B genotype (all discrete variables) between the group with ILD changes and the group without ILD changes present on enrollment HRCT

  Baseline

• Patient reported cough score

  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

  Baseline

• Patient reported dyspnea score

  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

  Baseline

• Clubbing

  Difference in presence of digital clubbing between the group with ILD changes and the group without ILD changes present on enrollment HRCT

  Baseline

• Crackles

  Difference in inspiratory crackles during lung auscultation between the group with ILD changes and the group without ILD changes present on enrollment HRCT

  Baseline

Secondary Outcomes (13)

• Forced Vital Capacity (FVC)

  2 years

• Haemoglobulin-corrected carbon monoxide diffusing capacity (DLCOc)

  2 years

• Total lung capacity (TLC)

  2 years

• Biomarker levels

  2 years

• Genotype

  2 years

Other Outcomes (6)

• Relatedness

  Baseline

• Blood count

  2 years

• Creatinin

  2 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Asymptomatic first-degree relatives of patients with FPF are invited to enroll.

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• St. Antonius Hospital: lead
• ZonMw: The Netherlands Organisation for Health Research and Development: collaborator
• Boehringer Ingelheim: collaborator

Study Sites (1)

St Antonius Hospital

Nieuwegein, 3435CM, Netherlands

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

The investigators will store the following tubes: One CPT tube / One EDTA tube / One lithium-heparin tube, each divided in three aliquots / Two serum tubes, each divided in three aliquots

MeSH Terms

Conditions

Idiopathic Pulmonary Fibrosis; Pulmonary Fibrosis

Condition Hierarchy (Ancestors)

Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases; Fibrosis; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Jan Grutters, Prof.

CONTACT

+31883201453; j.grutters@antoniusziekenhuis.nl

Martijn Maus, MD

CONTACT

+31883201467; m.maus@antoniusziekenhuis.nl

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr.

Study Record Dates

• First Submitted: March 28, 2022
• First Posted: May 10, 2022
• Study Start: June 16, 2021
• Primary Completion: June 16, 2025
• Study Completion: September 1, 2025
• Last Updated: May 10, 2022

Record last verified: 2022-03

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1)