Amyloidosis is an umbrella term for a group of rare and serious diseases that affect multiple organs throughout the body. The disease is caused by a build-up of a protein called amyloid in different tissues. This impairs organ function and can lead to organ failure. Commonly affected organs include the heart and kidneys. Among the several types of systemic amyloidosis, light-chain (AL) amyloidosis and Transthyretin amyloidosis (ATTR) are the most common. The overall disease (epidemiological) knowledge of systemic amyloidosis is scarce and inconsistent. Furthermore, the diagnostics for amyloidosis have improved over time, which may limit the value of some older studies and highlights the need to get more up-to-date epidemiologic data, particularly in the UK.
This study aims to provide an updated estimate of the extent (prevalence and incidence) of amyloidosis in the UK, overall and by major disease forms. This will enable a more detailed understanding of the disease and its impact in the country. This is expected to confer a public health benefit by establishing an up-to-date overview of the disease burden of amyloidosis overall and by subtype in the UK; this may help to increase rates of amyloidosis detection and treatment.
Amyloidosis refers to a group of rare disorders of protein folding characterized by extracellular tissue deposition of misfolded and aggregated autologous proteins that have multi-systemic implications. There is a lack of current, large-scale studies about the epidemiology of amyloidosis in the UK. The aim of this study is to provide an updated estimate of the prevalence and incidence of amyloidosis in the UK, overall and by major systemic forms. The study population will be primary care patients within the UK, registered with a GP practice on or before January 1st 2012 and with an amyloidosis diagnosis recorded during the period January 1st 2012 to December 31st 2022. This is an observational, cross-sectional study using data collected from primary care, via patient encounters with their GP. Data sources for the study will be CPRD Gold and CPRD Aurum – linked with HES and ONS. Descriptive analyses will be applied to understand the comorbidities and the mortality associated with the study population; no inferential testing or statistical modelling will be performed. Descriptive analyses will include: estimation of prevalence and incidence rates; mortality rates; and summaries of the frequencies (i.e., Ns, %) of comorbidities and treatments for 365-day pre/post-index periods. The intended public health benefit of the study will be to help better understand the amyloidosis burden in the UK. This may be of benefit in the development of better patient identification and diagnosis strategies, together with improving amyloidosis clinical management and disease outcomes.
Primary outcomes: prevalence and incidence rates of amyloidosis and its subtypes in the UK; secondary outcomes: comorbidities of interest in amyloidosis (pre-specified) and comorbidities in general in amyloidosis; mortality rates associated with amyloidosis; treatments associated with amyloidosis.
Richa Manwani - Chief Investigator - AstraZeneca Ltd - UK Headquarters
Daniel Carey - Corresponding Applicant - Alexion Pharma International Operations Limited (Ireland)
Ana Silva - Collaborator - Alexion Pharma Spain SL
Feifei Yang - Collaborator - Alexion Pharmaceuticals, Inc ( USA )
He Gao - Collaborator - AstraZeneca Ltd - UK Headquarters
Jil Billy Mamza - Collaborator - AstraZeneca Ltd - UK Headquarters
Pedro Laires - Collaborator - Alexion Pharma Spain SL
HES Accident and Emergency;HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data