Key takeaways
- 350-450 estimated total UK Pompe disease patients, infantile- and late-onset combined · UK Pompe Consortium / AXLRx Launch Readiness estimate
- ~200 registry-confirmed UK Pompe disease cohort actively tracked by the UK Pompe Consortium outcomes registry, predominantly LOPD
- ~180 registry-confirmed UK patients currently on alglucosidase alfa via NHS clinical commissioning policy
- 45-50 UK LOPD patients on long-term ERT identified as inadequate responders (~25%), the NHS-defined switch-eligible population · UK Pompe Consortium outcomes registry 2023
UK Pompe disease prevalence is estimated at 350-450 patients. Within the roughly 200-patient registry-confirmed cohort tracked by the UK Pompe Consortium, one in four long-term ERT patients is not holding stable.
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.
UK Pompe disease funnel — from total prevalence to the registry-confirmed switch-eligible pool
| Funnel Stage | Population | Source |
|---|---|---|
| Total UK Pompe disease prevalence (all subtypes) | 350-450 | UK Pompe Consortium / AXLRx estimate |
| Registry-confirmed cohort (predominantly LOPD) | ~200 | UK Pompe Consortium outcomes registry |
| Confirmed cohort on alglucosidase alfa (NHS) | ~180 | NHS clinical commissioning policy |
| Inadequate responders on long-term ERT | 45-50 (~25%) | UK Pompe Consortium outcomes registry 2023 |
Sources: UK Pompe Consortium outcomes registry 2023; NHS England Pompe disease clinical commissioning policy; AXLRx Launch Readiness UK Pompe Disease brief.
What this model answers
Every section answers a named commercial question your team is asking, scoped to your asset.
- How many UK patients are in the registry-confirmed Pompe disease cohort, and how does that relate to total prevalence? • Total UK prevalence (350-450) • the ~200-patient registry-confirmed cohort tracked by the UK Pompe Consortium • how the two figures reconcile
- How large is the inadequate-responder, switch-eligible population, and what defines it? • 45-50 patients (~25%) identified as inadequate responders on long-term ERT • the FVC-decline criteria that define inadequate response • the NHS switch-eligible population this represents
- What does the live, re-runnable funnel model actually contain? • 8-sheet structure • formulas throughout, zero hardcoded cells • UK Pompe Consortium registry citation per conversion step
What's inside
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1 · The Binding Constraint 2 pp
- Why the registry-confirmed cohort, not total prevalence, sets the addressable pool
- Reconciling the 350-450 total against the ~200-patient tracked cohort
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2 · Disease Burden (E1) — Total Prevalence 3 pp
- 350-450 total UK Pompe patients
- ~12-18 new IOPD diagnoses per year, symptomatic (no NBS pathway)
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3 · Diagnosis & Capture (E2) — Registry-Confirmed Cohort 4 pp
- ~200-patient UK Pompe Consortium registry cohort
- Diagnostic delay of 3-8 years from first LOPD symptom
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4 · Treatment Eligibility (E3) — ERT-Treated Population 3 pp
- ~180 patients on alglucosidase alfa via NHS commissioning policy
- Where the treated population sits within the confirmed cohort
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5 · Market Access (E4) — Inadequate-Responder Segmentation 3 pp
- 45-50 patients (~25%) inadequate responders on long-term ERT
- NHS switch-eligibility criteria
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6 · Sensitivity Analysis 3 pp
- Which assumptions move the eligible pool most
- Scenario ranges across the prevalence and response-rate inputs
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7 · Year 1·3·5 Projections 4 pp
- Patient volume by horizon under conservative, base, and aggressive scenarios
- Revenue translation inputs
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8 · Client Alignment Questions 2 pp
- The open questions your forecasting team must close before the model is finalised
- Structured for an internal forecast-review session
Appendix and source ledger included · 45-minute analyst readout included with delivery
Custom model delivered in 72 hours.
Assess this reportIncluded with every brief
Get Started
Commission this model
AXLRx delivers rare disease patient flow models built for forecasting and launch teams sizing the UK Pompe disease opportunity. Custom model in 72 hours.
- 1. Submit your requestSpecify your indication, market, and cohort definition.
- 2. Scoping callAXLRx analyst confirms funnel scope and comparator set before building.
- 3. DeliveryResearch-verified patient flow model in 72 hours with optional analyst readout.
How AXLRx builds this model
Prepared by MoatRx analysts on the AXLRx commercial consulting engine.
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.
- UK total Pompe disease prevalence estimate (350-450) verified against the AXLRx Launch Readiness UK Pompe Disease brief
- Registry-confirmed cohort (~200) verified against UK Pompe disease landscape figures
- ERT-treated population (~180) verified against NHS England clinical commissioning policy figures
- Inadequate-responder share (~25%, 45-50 patients) verified against UK Pompe Consortium outcomes registry 2023
Frequently asked questions
Deliverables What formats are included with every model?
Every commissioned Patient Flow Model includes an editable 8-sheet Excel funnel model (Strategic Context, Inputs, Model, Projections, Sensitivity, References, Market Context, QC), a PDF methodology brief, and an optional executive readout deck for forecasting and launch team presentations. A 45-minute analyst readout call is included.
Sources How is the epidemiology evidence verified?
AXLRx builds from primary sources: UK Pompe Consortium outcomes registry data and NHS England commissioning policy figures, not secondary summaries or market research reports. Every conversion rate is cited to a source and re-runnable in the model, not a black-box number.
Customisation Can I tailor the cohort definition or comparator set?
Yes. The intake form captures your indication, target market, cohort definition, and comparators. A scoping call confirms scope before research starts. Commission via the intake form to start.