Pompe disease (infant Onset IOPD and Late Onset LOPD) and Fabry disease are rare genetic disorders which are chronically debilitating and can lead to reduced life expectancy if left untreated. Severe forms of the diseases are usually diagnosed in infancy. Less severe forms can be difficult to diagnose as they are uncommon and present with a range of symptoms seen in other conditions. However, early diagnosis can allow prompt initiation of treatment, reducing the occurrence and severity of disease symptoms and extending life expectancy.
The study will provide updated information on how commonly Pompe disease and Fabry disease occur in the UK. The health of the populations with these diseases will be described. The study will report the average frequency of clinical symptoms, disabilities, survival and use of healthcare. The cost of their healthcare use will be estimated.
For IOPD, LOPD and Fabry disease, CPRD databases will be used to estimate the incidence (2000 to 2019) and point prevalence (2019) per 100,000 population, and the age and sex distribution at diagnosis. Observed survival from diagnosis to CPRD death date will be estimated as fixed duration survivals and as a survival plot with a mean reported. The prevalence of co-morbidities related to the conditions as of 31st December 2019 will be reported based on HES and CPRD. Mean healthcare resource use per month in secondary care (HES) and primary care (CPRD) will be estimated and costed. Secondary care resource utilisation will include total admitted time, admissions/bed days, outpatient appointments, A&E visits. which will be costed using HES generated Health Resource Group (HRG) including inpatient, outpatient, and A&E tariff costs. Primary care resource analyses in CPRD (Gold and Aurum) will include consultations, prescriptions and laboratory and diagnostic tests and will be costed based on Personal Social Services Research Unit reference costs and the British National Formulary.
Pompe disease; Fabry disease; survival; co-morbidities (respiratory, ocular, auditory, cardiovascular, musculoskeletal, renal, sleep disturbance, neurological and gastrointestinal); wheelchair use, ventilator use; secondary care and primary care resource use.
Craig Currie - Chief Investigator - Pharmatelligence Limited t/a Human Data Sciences
Nick Denholm - Corresponding Applicant - Harvey Walsh Ltd
Ben Van Hout - Collaborator - Harvey Walsh Ltd
Clare Halcro - Collaborator - Genzyme Limited (UK)
Eleanor Saunders - Collaborator - Genzyme Limited (UK)
Kinga Malottki - Collaborator - Genzyme Limited (UK)
Matthew O'Connell - Collaborator - Harvey Walsh Ltd
Rachel Lawson - Collaborator - Genzyme Limited (UK)
Viktor Chirikov - Collaborator - OPEN Health Group
Michael Wallington - Collaborator - OPEN VIE
HES Accident and Emergency;HES Admitted Patient Care;HES Outpatient