UK Pompe Disease Patient Flow Model

UK Pompe disease prevalence is estimated at 350 to 450 patients across infantile- and late-onset subtypes combined. Within that broader estimate, approximately 200 patients, predominantly late-onset (LOPD), make up the actively tracked, registry-confirmed cohort followed through the UK Pompe Consortium outcomes registry, an academic-clinical network spanning Guy's and St Thomas', Manchester, Birmingham, Addenbrooke's, and Edinburgh. The NHS newborn-screening programme does not currently include Pompe disease, so infantile-onset cases, roughly 12 to 18 diagnosed per year, are identified symptomatically rather than through a screening pathway.

Of the registry-confirmed cohort, roughly 180 patients are currently on alglucosidase alfa via NHS clinical commissioning policy. Response is not uniform: around 60 percent of patients on ERT for more than five years show continued stabilisation, but approximately 25 percent, an estimated 45 to 50 UK patients, show forced vital capacity decline of 5 to 15 percent over five years despite treatment. That 45-to-50-patient segment is the NHS-defined switch-eligible population and the addressable pool for next-generation ERT.

Every AXLRx patient flow model is built on a five-layer funnel: population, disease burden (E1), diagnosis and cohort capture (E2), treatment and eligibility (E3), market access (E4), then Year 1-3-5 projections across three scenarios. Delivered as a live Excel workbook, not a static table: 8 sheets, formulas throughout, zero hardcoded cells.

UK Pompe disease sources: UK Pompe Consortium outcomes registry data for the registry-confirmed cohort and inadequate-responder segmentation, and NHS England clinical commissioning policy figures for the ERT-treated population. The 350-450 total prevalence estimate and the ~200-patient registry-confirmed cohort are reconciled in this model as a broader estimate versus the actively tracked cohort, not competing totals.