Connective Tissue DiseasesPRECISE-PFNCT06702228
Precision Diagnosis and Care for Families With Pulmonary Fibrosis in Ireland
An observational study of Connective Tissue Diseases and Interstitial Lung Disease, run by Royal College of Surgeons, Ireland at 1 site in Ireland.
Trial summary
This study aims to improve the understanding of how genes and the environment can influence and cause pulmonary fibrosis. By identifying the presence of genes and other factors that can put people at risk of developing pulmonary fibrosis, the influence these factors have on the progression of the disease can be… Read more about this study
- Who is it for?
- Ages 18 to 85 years
- Conditions the study is for
- Connective Tissue Diseases, Interstitial Lung Disease, Idiopathic Pulmonary Fibrosis
- What is being tested?
- Six minute walk test (6MWT), Computer-tomography of the thorax (CT Thorax) and Quality of life questionnaires.
- How many people
- 300 participants
- Where
- 1 siteIreland
- Study dates
- 28 Sep 2021to 1 Apr 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Participants who meet the study criteria will be recruited from the rheumatology and respiratory clinics in Beaumont Hospital, a tertiary hospital in Dublin, Ireland.
Who may be able to join
- Able and willing to give written informed consent.
- An MDT diagnosis of fibrotic ILD which fall into one of the following three catagories;
- Have a multidisciplinary team (MDT) diagnosis of a fibrotic interstitial lung disease, reporting one or more relatives with a fibrotic form of ILD
- Have a MDT diagnosis of IPF in accordance with consensus criteria, ATS, ERS, JRS, ALAT guidelines without a family history of pulmonary fibrosis.
- Meet the American College of Rheumatology/European League Against Rheumatism criteria for rheumatoid arthritis, scleroderma, Sjogren's syndrome, idiopathic inflammatory myopathy and systemic lupus erythematosus.
Who cannot join
- Currently participating in an interventional clinic trial.
- Change in clinical phenotype from initial radiological diagnosis to screening.
- Acute or chronic hypersensitivity pneumonitis with consensus criteria (appropriate exposure history, radiological features ± avian and fungal precipitins).
- Asbestosis (appropriate occupational history and radiological evidence of asbestos exposure)
- Life expectancy for any disease, including ILD <12 months (investigator assessment)
- Major extrapulmonary physiological restriction (e.g. chest wall abnormality, large pleural effusion)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Precision Diagnosis and Care for Families With Pulmonary Fibrosis in Ireland [PRECISE-PF]
This study aims to improve the understanding of how genes and the environment can influence and cause pulmonary fibrosis. By identifying the presence of genes and other factors that can put people at risk of developing pulmonary fibrosis, the influence these factors have on the progression of the disease can be studied.
Interstitial lung disease (ILD) is the medical term given to a group of lung diseases affecting the same part of the lung, the interstitium, each with similar symptoms. In some of these diseases, inflammation leads to lung scarring, known as fibrosis. Idiopathic Pulmonary Fibrosis (IPF) is one of these diseases; it has a particular pattern on computed tomography (CT) scans. IPF is 'idiopathic' as it is not yet fully understood why it happens. It has a poor prognosis. The average survival time is three to five years after diagnosis. While new antifibrotic drugs offer hope of slowing disease progression, lung transplant is the only cure, and it comes with its significant risks.
Read more
Although it is not fully understood what causes IPF, it is known that genetic factors significantly increase the risk of developing the disease. Up to a quarter (25%) of people with IPF with a family history appear to have a causative genetic variant. Familial-pulmonary-fibrosis (FPF), the term for people with at least one relative with IPF, may have worse disease when compared to those without a family history. However, this needs more research. Patients with specific genes, telomere-related gene variants, appear to have a greater risk of developing blood disorders from medications given to suppress the body's immune system after a lung transplant.
Progressive pulmonary fibrosis is pulmonary fibrosis where there is irreversible worsening of the disease, worsening of lung function, respiratory symptoms and even early death. It is of growing importance regardless of the cause, whether it be idiopathic, familial or secondary to a connective tissue disease. ILD is increasingly recognised as a complication of connective tissue diseases. It is the leading cause of death in people with systemic sclerosis. The new antifibrotic drugs slow the progression of CTD-ILD. People with progressive pulmonary fibrosis who have a greater than 10% drop over one year in a measure of their lung function, called the forced vital capacity, benefit most from antifibrotic therapy. Early identification of people with progressive disease would allow the commencement of treatment quicker. At-home spirometry may be a way of identifying those who are worsening early.
This study hypothesises that by improving knowledge of factors that affect disease behaviour and progression and assessing tools for the early identification of progressive disease, such as at-home spirometry and CT scan pattern determination by deep-learning analysis, we can provide 'precision' diagnosis and treatment. It is hoped that this improved understanding will help reduce the clinical risk for people with pulmonary fibrosis and their families.
This study aims to recruit 300 patients: 100 with IPF, 100 with FPF, and 100 with CTD ILD. Each participant will be followed for one year.
This observational study aims to help answer a number of questions:
- What genetic variants cause people to develop ILD, and which increase a person's risk of developing ILD are present in the study population?
- How does pulmonary fibrosis behave in people who have a family history of IPF compared to those who do not and in people with CTD-ILD?
- Are different types of pulmonary fibrosis more progressive than others i.e. Is pulmonary fibrosis in those with a family history of pulmonary fibrosis more progressive than in those who do not have a family history?
- Is the disease in those with a genetic variant known to cause ILD worse than in those who don't have a gene?
- Can at-home spirometry help identify people at risk of progressive disease early?
- Can deep-learning analysis (AI) be used to find CT scan patterns to predict when pulmonary fibrosis will worsen?
- Conditions
- Connective Tissue Diseases, Interstitial Lung Disease, Idiopathic Pulmonary Fibrosis, Familial Idiopathic Pulmonary Fibrosis, Pulmonary Fibrosis, Pulmonary Fibrosis Interstitial
- Being tested
- Six minute walk test (6MWT), Computer-tomography of the thorax (CT Thorax), Quality of life questionnaires., Genetic Testing, Spirometry
- Keywords
- Genetic diseases, Diagnosis, Computer-assisted, Early Diagnosis, Pulmonary Fibrosis, Idiopathic Interstitial Pneumonias
- Medical subject headings
- Connective Tissue Diseases, Lung Diseases, Interstitial, Idiopathic Pulmonary Fibrosis, Pulmonary Fibrosis, Genetic Diseases, Inborn, Disease, Idiopathic Interstitial Pneumonias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Six minute walk test (6MWT)Diagnostic test
Assessment of exercise capacity by the carrying out of a 6MWT at 0, 6 and 12 months.
Computer-tomography of the thorax (CT Thorax)Diagnostic test
Radiological assessment via CT Thorax, preferably high-resolution CT thorax at baseline on entering the study and at one year. CT images will be collected on study end. CT images in all subjects will be evaluated by three readers blinded to any other interpretation and conforming to ATS-guidelines. Coded data from CT scans will be shared with our collaborator Professor Simon Walsh at Imperial College, London who will use computational methods to identify novel radiologic phenotypes linked to disease behaviour of our patient's fibrotic lung disease.
Quality of life questionnaires.Other
Qality of life questionnaires including; modified Medical Research Council (mMRC) dyspnea scale, The King's Brief Interstitial Lung Disease Questionnaire (KBILD), The Leister Cough Questionnaire and the EQ-5D-3L questionnaire are measured at 0, 6 and 12 months
Genetic TestingDiagnostic test
10ml of serum will be collected for DNA extraction and analysed for causative and at risk genetic mutations
SpirometryDiagnostic test
We will carry out spirometry at baseline, 6 and 2 months including forced vital capacity and diffusing capacity of the lungs for carbon monoxide.
SerologyDiagnostic test
Serology which may indicate an underlying diagnosis of ILD will be carried out on study entry. This will include a full blood count, renal profile, liver profile, C-reactive protein, creatine kinase, erythrocyte sedimentation rate, antinuclear antibodies, anticyclic citrullinated peptide antibodies, rheumatoid factor, an extended myositis antibody panel, sjögren's antibodies, scleroderma antibodies and a hypersensivity pneumonitis panel if clinically indicated.
Other Quality of Life QuestionnairesOther
Patient Global Assessment and Clinician Global Assessment scores completed at 0, 6 and 12 months
PatientMPower Home Monitoring AppOther
Continuous at home monitoring of patients using home-based digital spirometry and pulse-oximetry with real-time feedback readings to patient and clinician. Smartphone app for patients, spirometer and pulse oximeter are connected to the app via Bluetooth. Patients are asked to take 2 readings per week.
| Study group | Role | What they receive |
|---|---|---|
| Familial pulmonary fibrosis group | Patients meeting the study inclusion criteria with an multidisciplinary team (MDT) diagnosis of a fibrotic interstitial lung disease, reporting one or more relatives with a fibrotic form of ILD Receives: Diagnostic Test: Six minute walk test (6MWT); Diagnostic Test: Computer-tomography of the thorax (CT Thorax); Other: Quality of life questionnaires.; Diagnostic Test: Genetic Testing; Diagnostic Test: Spirometry; Diagnostic Test: Serology; Other: PatientMPower Home Monitoring App | |
| Idiopathic pulmonary fibrosis group | Patients meeting the study inclusion criteria with an MDT diagnosis of IPF in accordance with consensus criteria, ATS, ERS, JRS, ALAT guidelines, without a family history of pulmonary fibrosis. Receives: Diagnostic Test: Six minute walk test (6MWT); Diagnostic Test: Computer-tomography of the thorax (CT Thorax); Other: Quality of life questionnaires.; Diagnostic Test: Genetic Testing; Diagnostic Test: Spirometry; Diagnostic Test: Serology; Other: PatientMPower Home Monitoring App | |
| Connective tissue disease related interstitial lung disease group | Patients meeting the study inclusion criteria who meet the American College of Rheumatology/European League Against Rheumatism criteria for rheumatoid arthritis, scleroderma, Sjogren's syndrome, idiopathic inflammatory myopathy and systemic lupus erythematosus criteria Receives: Diagnostic Test: Six minute walk test (6MWT); Diagnostic Test: Computer-tomography of the thorax (CT Thorax); Other: Quality of life questionnaires.; Diagnostic Test: Genetic Testing; Diagnostic Test: Spirometry; Diagnostic Test: Serology; Other: Other Quality of Life Questionnaires; Other: PatientMPower Home Monitoring App |
What is being measured
The primary outcome is the main question the study is designed to answer.
Determine if familial-pulmonary-fibrosis is more progressive than sporadic-IPF
Disease progression defined as relative FVC decline ≥10% or death/lung transplant within 12 months of entering the study.
Measured: 12-months of entering the study
Secondary outcomes (8)
All-cause mortality
Measured: Time of censoring or 12 months
Identify genotypes present in our study population
Identify pathogenic genetic variants known to cause ILD present in our study population as well as at risk alleles e.g. MUC5B.
Measured: Within first 6 months of study recruitment
Change in quality of life scores from baseline to 1 year
Identify the number of participants with a change in their quality of life (QOL) scores over a twelve month period and if the change in QOL score is more likely to be associated factors such as genotype. Quality of life will be assessed based on the results of quality of life questionnaires completed including the Medical Research Council Dyspnoea Scale, Leicester Cough Questionnaire, The King's Brief Interstitial Lung Disease and EQ-5D-5L. The CTD-ILD cohort will also have Patient Global Assessment and Clinician Global Assessment scores recorded. These will be completed as close as possible to 0 months for the baseline score and at 6 and 12 months to assess for a change.
Measured: From date of study entry (baseline) until 12-month-assessment questionnaire completed, 12 months
Change in 6MWT from baseline to 1 year
6-Minute walk tests will be carried out in a clinical setting by a trained physiotherapist at baseline (0), 6 and 12 months.
Measured: On entry to study (baseline) to end of observation period (12 months)
Change in pulmonary function tests from baseline to 1 year
Changes in forced vital capacity and diffusing capacity of the lungs for carbon monoxide will be assessed
Measured: Baseline (0 months) to 12 month follow-up
Changes and patterns in at home-spirometry with the patientMpower App
Using the patientMpower App patients will take twice-weekly home spirometry readings which will be analysed for changes and patterns in spirometry readings
Measured: 12 Months
Change in HRCT scan
Comparison between baseline CT Thorax and follow-up CT scan 1 year later using American Thoracic Society Guidelines to determine if there is radiological progression.
Measured: 12 months
Identify radiological phenotypes linked to disease behavior in pulmonary fibrosis
Use of computational methods to identify novel radiologic phenotypes linked to disease behaviour
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Nov 2024
- Study start28 Sep 2021
- Primary completion1 Jul 2026 (estimated)
- Study completion1 Apr 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for Connective Tissue DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Royal College of Surgeons, Ireland
- Sponsor type
- University, hospital or other
- Collaborators
- patientMpower Ltd., Imperial College London
- Responsible party
- Sponsor
- Investigators
- Killian Hurley, Principal investigator, RCSI
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06702228
- Sponsor's protocol ID
- PRECISE-PF
- Acronym
- PRECISE-PF
- Status last verified
- Jun 2024
- First submitted
- 6 Jun 2024
- Last updated
- 22 Nov 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Peljto AL, Blumhagen RZ, Walts AD, Cardwell J, Powers J, Corte TJ, Dickinson JL, Glaspole I, Moodley YP, Vasakova MK, Bendstrup E, Davidsen JR, Borie R, Crestani B, Dieude P, Bonella F, Costabel U, Gudmundsson G, Donnelly SC, Egan J, Henry MT, Keane MP, Kennedy MP, McCarthy C, McElroy AN, Olaniyi JA, O'Reilly KMA, Richeldi L, Leone PM, Poletti V, Puppo F, Tomassetti S, Luzzi V, Kokturk N, Mogulkoc N, Fiddler CA, Hirani N, Jenkins RG, Maher TM, Molyneaux PL, Parfrey H, Braybrooke R, Blackwell TS, Jackson PD, Nathan SD, Porteous MK, Brown KK, Christie JD, Collard HR, Eickelberg O, Foster EE, Gibson KF, Glassberg M, Kass DJ, Kropski JA, Lederer D, Linderholm AL, Loyd J, Mathai SK, Montesi SB, Noth I, Oldham JM, Palmisciano AJ, Reichner CA, Rojas M, Roman J, Schluger N, Shea BS, Swigris JJ, Wolters PJ, Zhang Y, Prele CMA, Enghelmayer JI, Otaola M, Ryerson CJ, Salinas M, Sterclova M, Gebremariam TH, Myllarniemi M, Carbone RG, Furusawa H, Hirose M, Inoue Y, Miyazaki Y, Ohta K, Ohta S, Okamoto T, Kim DS, Pardo A, Selman M, Aranda AU, Park MS, Park JS, Song JW, Molina-Molina M, Planas-Cerezales L, Westergren-Thorsson G, Smith AV, Manichaikul AW, Kim JS, Rich SS, Oelsner EC, Barr RG, Rotter JI, Dupuis J, O'Connor G, Vasan RS, Cho MH, Silverman EK, Schwarz MI, Steele MP, Lee JS, Yang IV, Fingerlin TE, Schwartz DA. Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants. Am J Respir Crit Care Med. 2023 May 1;207(9):1194-1202. doi: 10.1164/rccm.202207-1331OC.
PubMed 36602845Zhang D, Newton CA. Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications. Chest. 2021 Nov;160(5):1764-1773. doi: 10.1016/j.chest.2021.06.037. Epub 2021 Jun 26.
PubMed 34186035Cutting CC, Bowman WS, Dao N, Pugashetti JV, Garcia CK, Oldham JM, Newton CA. Family History of Pulmonary Fibrosis Predicts Worse Survival in Patients With Interstitial Lung Disease. Chest. 2021 May;159(5):1913-1921. doi: 10.1016/j.chest.2021.01.026. Epub 2021 Jan 21.
PubMed 33484728Borie R, Kannengiesser C, Hirschi S, Le Pavec J, Mal H, Bergot E, Jouneau S, Naccache JM, Revy P, Boutboul D, Peffault de la Tour R, Wemeau-Stervinou L, Philit F, Cordier JF, Thabut G, Crestani B, Cottin V; Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P). Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. J Heart Lung Transplant. 2015 Apr;34(4):538-46. doi: 10.1016/j.healun.2014.11.010. Epub 2014 Nov 13.
PubMed 25612863Tyndall AJ, Bannert B, Vonk M, Airo P, Cozzi F, Carreira PE, Bancel DF, Allanore Y, Muller-Ladner U, Distler O, Iannone F, Pellerito R, Pileckyte M, Miniati I, Ananieva L, Gurman AB, Damjanov N, Mueller A, Valentini G, Riemekasten G, Tikly M, Hummers L, Henriques MJ, Caramaschi P, Scheja A, Rozman B, Ton E, Kumanovics G, Coleiro B, Feierl E, Szucs G, Von Muhlen CA, Riccieri V, Novak S, Chizzolini C, Kotulska A, Denton C, Coelho PC, Kotter I, Simsek I, de la Pena Lefebvre PG, Hachulla E, Seibold JR, Rednic S, Stork J, Morovic-Vergles J, Walker UA. Causes and risk factors for death in systemic sclerosis: a study from the EULAR Scleroderma Trials and Research (EUSTAR) database. Ann Rheum Dis. 2010 Oct;69(10):1809-15. doi: 10.1136/ard.2009.114264. Epub 2010 Jun 15.
PubMed 20551155Navaratnam V, Fleming KM, West J, Smith CJ, Jenkins RG, Fogarty A, Hubbard RB. The rising incidence of idiopathic pulmonary fibrosis in the U.K. Thorax. 2011 Jun;66(6):462-7. doi: 10.1136/thx.2010.148031. Epub 2011 Apr 27.
PubMed 21525528Distler O, Highland KB, Gahlemann M, Azuma A, Fischer A, Mayes MD, Raghu G, Sauter W, Girard M, Alves M, Clerisme-Beaty E, Stowasser S, Tetzlaff K, Kuwana M, Maher TM; SENSCIS Trial Investigators. Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease. N Engl J Med. 2019 Jun 27;380(26):2518-2528. doi: 10.1056/NEJMoa1903076. Epub 2019 May 20.
PubMed 31112379Yang M, Wu Y, Liu X, Zhao C, Li T, Li T, Zhang X, Jiang H, Mao B, Liu W. Efficacy and safety of antifibrotic agents in the treatment of CTD-ILD and RA-ILD: A systematic review and meta-analysis. Respir Med. 2023 Sep;216:107329. doi: 10.1016/j.rmed.2023.107329. Epub 2023 Jun 12.
PubMed 37315742
Study at a glance
From the registry record, last updated by the sponsor on 22 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Precision Diagnosis and Care for Families With Pulmonary Fibrosis in Ireland [PRECISE-PF]
- ClinicalTrials.gov ID
- NCT06702228
- Acronym / sponsor ID
- PRECISE-PF / PRECISE-PF
- Conditions
- Connective Tissue Diseases, Interstitial Lung Disease, Idiopathic Pulmonary Fibrosis, Familial Idiopathic Pulmonary Fibrosis, Pulmonary Fibrosis, Pulmonary Fibrosis Interstitial
- Keywords
- Genetic diseases, Diagnosis, Computer-assisted, Early Diagnosis, Pulmonary Fibrosis, Idiopathic Interstitial Pneumonias
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Royal College of Surgeons, IrelandUniversity, hospital or other
- Collaborators
- patientMpower Ltd., Imperial College London
- Study start
- 28 Sep 2021 (actual)
- Primary completion
- 1 Jul 2026 (estimated)
- Study completion
- 1 Apr 2028 (estimated)
- First posted
- 22 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study aims to improve the understanding of how genes and the environment can influence and cause pulmonary fibrosis. By identifying the presence of genes and other factors that can put people at risk of developing pulmonary fibrosis, the influence these factors have on the progression of the disease can be studied.
Interstitial lung disease (ILD) is the medical term given to a group of lung diseases affecting the same part of the lung, the interstitium, each with similar symptoms. In some of these diseases, inflammation leads to lung scarring, known as fibrosis. Idiopathic Pulmonary Fibrosis (IPF) is one of these diseases; it has a particular pattern on computed tomography (CT) scans. IPF is 'idiopathic' as it is not yet fully understood why it happens. It has a poor prognosis. The average survival time is three to five years after diagnosis. While new antifibrotic drugs offer hope of slowing disease progression, lung transplant is the only cure, and it comes with its significant risks.
Although it is not fully understood what causes IPF, it is known that genetic factors significantly increase the risk of developing the disease. Up to a quarter (25%) of people with IPF with a family history appear to have a causative genetic variant. Familial-pulmonary-fibrosis (FPF), the term for people with at least one relative with IPF, may have worse disease when compared to those without a family history. However, this needs more research. Patients with specific genes, telomere-related gene variants, appear to have a greater risk of developing blood disorders from medications given to suppress the body's immune system after a lung transplant.
Progressive pulmonary fibrosis is pulmonary fibrosis where there is irreversible worsening of the disease, worsening of lung function, respiratory symptoms and even early death. It is of growing importance regardless of the cause, whether it be idiopathic, familial or secondary to a connective tissue disease. ILD is increasingly recognised as a complication of connective tissue diseases. It is the leading cause of death in people with systemic sclerosis. The new antifibrotic drugs slow the progression of CTD-ILD. People with progressive pulmonary fibrosis who have a greater than 10% drop over one year in a measure of their lung function, called the forced vital capacity, benefit most from antifibrotic therapy. Early identification of people with progressive disease would allow the commencement of treatment quicker. At-home spirometry may be a way of identifying those who are worsening early.
This study hypothesises that by improving knowledge of factors that affect disease behaviour and progression and assessing tools for the early identification of progressive disease, such as at-home spirometry and CT scan pattern determination by deep-learning analysis, we can provide 'precision' diagnosis and treatment. It is hoped that this improved understanding will help reduce the clinical risk for people with pulmonary fibrosis and their families.
This study aims to recruit 300 patients: 100 with IPF, 100 with FPF, and 100 with CTD ILD. Each participant will be followed for one year.
This observational study aims to help answer a number of questions:
- What genetic variants cause people to develop ILD, and which increase a person's risk of developing ILD are present in the study population?
- How does pulmonary fibrosis behave in people who have a family history of IPF compared to those who do not and in people with CTD-ILD?
- Are different types of pulmonary fibrosis more progressive than others i.e. Is pulmonary fibrosis in those with a family history of pulmonary fibrosis more progressive than in those who do not have a family history?
- Is the disease in those with a genetic variant known to cause ILD worse than in those who don't have a gene?
- Can at-home spirometry help identify people at risk of progressive disease early?
- Can deep-learning analysis (AI) be used to find CT scan patterns to predict when pulmonary fibrosis will worsen?
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Familial pulmonary fibrosis group | – | Diagnostic Test: Six minute walk test (6MWT), Diagnostic Test: Computer-tomography of the thorax (CT Thorax), Other: Quality of life questionnaires., Diagnostic Test: Genetic Testing, Diagnostic Test: Spirometry, Diagnostic Test: Serology, Other: PatientMPower Home Monitoring AppPatients meeting the study inclusion criteria with an multidisciplinary team (MDT) diagnosis of a fibrotic interstitial lung disease, reporting one or more relatives with a fibrotic form of ILD |
| Idiopathic pulmonary fibrosis group | – | Diagnostic Test: Six minute walk test (6MWT), Diagnostic Test: Computer-tomography of the thorax (CT Thorax), Other: Quality of life questionnaires., Diagnostic Test: Genetic Testing, Diagnostic Test: Spirometry, Diagnostic Test: Serology, Other: PatientMPower Home Monitoring AppPatients meeting the study inclusion criteria with an MDT diagnosis of IPF in accordance with consensus criteria, ATS, ERS, JRS, ALAT guidelines, without a family history of pulmonary fibrosis. |
| Connective tissue disease related interstitial lung disease group | – | Diagnostic Test: Six minute walk test (6MWT), Diagnostic Test: Computer-tomography of the thorax (CT Thorax), Other: Quality of life questionnaires., Diagnostic Test: Genetic Testing, Diagnostic Test: Spirometry, Diagnostic Test: Serology, Other: Other Quality of Life Questionnaires, Other: PatientMPower Home Monitoring AppPatients meeting the study inclusion criteria who meet the American College of Rheumatology/European League Against Rheumatism criteria for rheumatoid arthritis, scleroderma, Sjogren's syndrome, idiopathic inflammatory myopathy and systemic lupus erythematosus criteria |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants who meet the study criteria will be recruited from the rheumatology and respiratory clinics in Beaumont Hospital, a tertiary hospital in Dublin, Ireland.
Key inclusion criteria (5 listed)
- Able and willing to give written informed consent.
- An MDT diagnosis of fibrotic ILD which fall into one of the following three catagories;
Key exclusion criteria (6 listed)
- Currently participating in an interventional clinic trial.
- Change in clinical phenotype from initial radiological diagnosis to screening.
- Acute or chronic hypersensitivity pneumonitis with consensus criteria (appropriate exposure history, radiological features ± avian and fungal precipitins).
- Asbestosis (appropriate occupational history and radiological evidence of asbestos exposure)
- Life expectancy for any disease, including ILD <12 months (investigator assessment)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Six minute walk test (6MWT)Assessment of exercise capacity by the carrying out of a 6MWT at 0, 6 and 12 months. | Diagnostic test | Connective tissue disease related interstitial lung disease group, Familial pulmonary fibrosis group, Idiopathic pulmonary fibrosis group |
| Computer-tomography of the thorax (CT Thorax)Radiological assessment via CT Thorax, preferably high-resolution CT thorax at baseline on entering the study and at one year. CT images will be collected on study end. CT images in all subjects will be evaluated by three readers blinded to any other interpretation and conforming to ATS-guidelines. Coded data from CT scans will be shared with our collaborator Professor Simon Walsh at Imperial College, London who will use computational methods to identify novel radiologic phenotypes linked to disease behaviour of our patient's fibrotic lung disease. | Diagnostic test | Connective tissue disease related interstitial lung disease group, Familial pulmonary fibrosis group, Idiopathic pulmonary fibrosis group |
| Quality of life questionnaires.Qality of life questionnaires including; modified Medical Research Council (mMRC) dyspnea scale, The King's Brief Interstitial Lung Disease Questionnaire (KBILD), The Leister Cough Questionnaire and the EQ-5D-3L questionnaire are measured at 0, 6 and 12 months | Other | Connective tissue disease related interstitial lung disease group, Familial pulmonary fibrosis group, Idiopathic pulmonary fibrosis group |
| Genetic Testing10ml of serum will be collected for DNA extraction and analysed for causative and at risk genetic mutations | Diagnostic test | Connective tissue disease related interstitial lung disease group, Familial pulmonary fibrosis group, Idiopathic pulmonary fibrosis group |
| SpirometryWe will carry out spirometry at baseline, 6 and 2 months including forced vital capacity and diffusing capacity of the lungs for carbon monoxide. | Diagnostic test | Connective tissue disease related interstitial lung disease group, Familial pulmonary fibrosis group, Idiopathic pulmonary fibrosis group |
| SerologySerology which may indicate an underlying diagnosis of ILD will be carried out on study entry. This will include a full blood count, renal profile, liver profile, C-reactive protein, creatine kinase, erythrocyte sedimentation rate, antinuclear antibodies, anticyclic citrullinated peptide antibodies, rheumatoid factor, an extended myositis antibody panel, sjögren's antibodies, scleroderma antibodies and a hypersensivity pneumonitis panel if clinically indicated. | Diagnostic test | Connective tissue disease related interstitial lung disease group, Familial pulmonary fibrosis group, Idiopathic pulmonary fibrosis group |
| Other Quality of Life QuestionnairesPatient Global Assessment and Clinician Global Assessment scores completed at 0, 6 and 12 months | Other | Connective tissue disease related interstitial lung disease group |
| PatientMPower Home Monitoring AppContinuous at home monitoring of patients using home-based digital spirometry and pulse-oximetry with real-time feedback readings to patient and clinician. Smartphone app for patients, spirometer and pulse oximeter are connected to the app via Bluetooth. Patients are asked to take 2 readings per week. | Other | Connective tissue disease related interstitial lung disease group, Familial pulmonary fibrosis group, Idiopathic pulmonary fibrosis group |
Primary outcome
Determine if familial-pulmonary-fibrosis is more progressive than sporadic-IPF
Time frame: 12-months of entering the study
Disease progression defined as relative FVC decline ≥10% or death/lung transplant within 12 months of entering the study.
8 secondary outcomes
All-cause mortality
Time frame: Time of censoring or 12 months
Identify genotypes present in our study population
Time frame: Within first 6 months of study recruitment
Change in quality of life scores from baseline to 1 year
Time frame: From date of study entry (baseline) until 12-month-assessment questionnaire completed, 12 months
Change in 6MWT from baseline to 1 year
Time frame: On entry to study (baseline) to end of observation period (12 months)
Change in pulmonary function tests from baseline to 1 year
Time frame: Baseline (0 months) to 12 month follow-up
Changes and patterns in at home-spirometry with the patientMpower App
Time frame: 12 Months
Change in HRCT scan
Time frame: 12 months
Identify radiological phenotypes linked to disease behavior in pulmonary fibrosis
Time frame: 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Nov 2024.
- Background: PubMed 36602845Peljto AL, Blumhagen RZ, Walts AD, Cardwell J, Powers J, Corte TJ, Dickinson JL, Glaspole I, Moodley YP, Vasakova MK, Bendstrup E, Davidsen JR, Borie R, Crestani B, Dieude P, Bonella F, Costabel U, Gudmundsson G, Donnelly SC, Egan J, Henry MT, Keane MP, Kennedy MP, McCarthy C, McElroy AN, Olaniyi JA, O'Reilly KMA, Richeldi L, Leone PM, Poletti V, Puppo F, Tomassetti S, Luzzi V, Kokturk N, Mogulkoc N, Fiddler CA, Hirani N, Jenkins RG, Maher TM, Molyneaux PL, Parfrey H, Braybrooke R, Blackwell TS, Jackson PD, Nathan SD, Porteous MK, Brown KK, Christie JD, Collard HR, Eickelberg O, Foster EE, Gibson KF, Glassberg M, Kass DJ, Kropski JA, Lederer D, Linderholm AL, Loyd J, Mathai SK, Montesi SB, Noth I, Oldham JM, Palmisciano AJ, Reichner CA, Rojas M, Roman J, Schluger N, Shea BS, Swigris JJ, Wolters PJ, Zhang Y, Prele CMA, Enghelmayer JI, Otaola M, Ryerson CJ, Salinas M, Sterclova M, Gebremariam TH, Myllarniemi M, Carbone RG, Furusawa H, Hirose M, Inoue Y, Miyazaki Y, Ohta K, Ohta S, Okamoto T, Kim DS, Pardo A, Selman M, Aranda AU, Park MS, Park JS, Song JW, Molina-Molina M, Planas-Cerezales L, Westergren-Thorsson G, Smith AV, Manichaikul AW, Kim JS, Rich SS, Oelsner EC, Barr RG, Rotter JI, Dupuis J, O'Connor G, Vasan RS, Cho MH, Silverman EK, Schwarz MI, Steele MP, Lee JS, Yang IV, Fingerlin TE, Schwartz DA. Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants. Am J Respir Crit Care Med. 2023 May 1;207(9):1194-1202. doi: 10.1164/rccm.202207-1331OC.
- Background: PubMed 34186035Zhang D, Newton CA. Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications. Chest. 2021 Nov;160(5):1764-1773. doi: 10.1016/j.chest.2021.06.037. Epub 2021 Jun 26.
- Background: PubMed 33484728Cutting CC, Bowman WS, Dao N, Pugashetti JV, Garcia CK, Oldham JM, Newton CA. Family History of Pulmonary Fibrosis Predicts Worse Survival in Patients With Interstitial Lung Disease. Chest. 2021 May;159(5):1913-1921. doi: 10.1016/j.chest.2021.01.026. Epub 2021 Jan 21.
- Background: PubMed 25612863Borie R, Kannengiesser C, Hirschi S, Le Pavec J, Mal H, Bergot E, Jouneau S, Naccache JM, Revy P, Boutboul D, Peffault de la Tour R, Wemeau-Stervinou L, Philit F, Cordier JF, Thabut G, Crestani B, Cottin V; Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P). Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. J Heart Lung Transplant. 2015 Apr;34(4):538-46. doi: 10.1016/j.healun.2014.11.010. Epub 2014 Nov 13.
- Background: PubMed 20551155Tyndall AJ, Bannert B, Vonk M, Airo P, Cozzi F, Carreira PE, Bancel DF, Allanore Y, Muller-Ladner U, Distler O, Iannone F, Pellerito R, Pileckyte M, Miniati I, Ananieva L, Gurman AB, Damjanov N, Mueller A, Valentini G, Riemekasten G, Tikly M, Hummers L, Henriques MJ, Caramaschi P, Scheja A, Rozman B, Ton E, Kumanovics G, Coleiro B, Feierl E, Szucs G, Von Muhlen CA, Riccieri V, Novak S, Chizzolini C, Kotulska A, Denton C, Coelho PC, Kotter I, Simsek I, de la Pena Lefebvre PG, Hachulla E, Seibold JR, Rednic S, Stork J, Morovic-Vergles J, Walker UA. Causes and risk factors for death in systemic sclerosis: a study from the EULAR Scleroderma Trials and Research (EUSTAR) database. Ann Rheum Dis. 2010 Oct;69(10):1809-15. doi: 10.1136/ard.2009.114264. Epub 2010 Jun 15.
- Background: PubMed 21525528Navaratnam V, Fleming KM, West J, Smith CJ, Jenkins RG, Fogarty A, Hubbard RB. The rising incidence of idiopathic pulmonary fibrosis in the U.K. Thorax. 2011 Jun;66(6):462-7. doi: 10.1136/thx.2010.148031. Epub 2011 Apr 27.
- Background: PubMed 31112379Distler O, Highland KB, Gahlemann M, Azuma A, Fischer A, Mayes MD, Raghu G, Sauter W, Girard M, Alves M, Clerisme-Beaty E, Stowasser S, Tetzlaff K, Kuwana M, Maher TM; SENSCIS Trial Investigators. Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease. N Engl J Med. 2019 Jun 27;380(26):2518-2528. doi: 10.1056/NEJMoa1903076. Epub 2019 May 20.
- Background: PubMed 37315742Yang M, Wu Y, Liu X, Zhao C, Li T, Li T, Zhang X, Jiang H, Mao B, Liu W. Efficacy and safety of antifibrotic agents in the treatment of CTD-ILD and RA-ILD: A systematic review and meta-analysis. Respir Med. 2023 Sep;216:107329. doi: 10.1016/j.rmed.2023.107329. Epub 2023 Jun 12.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Killian Hurley principal investigator
RCSI
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Connective Tissue Diseases and Interstitial Lung Disease, run by Royal College of Surgeons, Ireland at 1 site in Ireland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Nov 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Ireland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Killian Hurley (+35318093000 ext. 3058, killianhurley@rcsi.ie), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determine if familial-pulmonary-fibrosis is more progressive than sporadic-IPF (time frame: 12-months of entering the study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06702228, which also lists 8 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Nov 2024.