A descriptive analysis of Pompe disease and Fabry disease based on UK electronic primary healthcare records and linked secondary care data

Date of ISAC Approval: 
Lay Summary: 
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.
Technical Summary: 
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.
Health Outcomes to be Measured: 
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.

Professor Craig Currie - Chief Investigator - Pharmatelligence
Professor Ben Van Hout - Collaborator - University of Sheffield
Dr Clare Halcro - Collaborator - Genzyme - Sanofi Company
Ms Eleanor Saunders - Collaborator - Genzyme - Sanofi Company
Dr Kinga Malottki - Collaborator - Genzyme - Sanofi Company
Mr Matthew O'Connell - Collaborator - OPEN VIE ( Harvey Walsh Ltd )
Mr Michael Wallington - Collaborator - OPEN VIE ( Harvey Walsh Ltd )
Dr Rachel Lawson - Collaborator - Genzyme - Sanofi Company
Mrs Sue Beecroft - Corresponding Applicant - OPEN VIE ( Harvey Walsh Ltd )
Dr Viktor Chirikov - Collaborator - OPEN VIE ( Harvey Walsh Ltd )

HES A&E;HES Admitted;HES Outpatient