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?