Key takeaways
- ~200 confirmed UK Pompe patients under active shared care, UK Pompe Consortium registry (infantile- and late-onset combined)
- 350-450 broader estimated total UK Pompe prevalence, including the undiagnosed and registry-uncaptured pool
- 30-50 ADA-positive inadequate responders within the confirmed treated population, the strongest NICE-positioning subgroup
- 80-120 confirmed patients on home non-invasive ventilation with FVC below 50% predicted, the highest-urgency subgroup
UK Pompe sizing has two legitimate population figures, roughly 200 confirmed and 350-450 total estimated prevalence, and the addressable market sits in a narrower subgroup within the confirmed population.
Two UK Pompe disease population figures appear across the evidence base, and they describe different scopes rather than disagreeing. The UK Pompe Consortium registry, the academic-clinical network spanning Guy's and St Thomas', Manchester, Birmingham, Addenbrooke's, and Edinburgh, counts roughly 200 confirmed patients, infantile- and late-onset combined, under active shared care. A separate estimate of 350 to 450 total UK Pompe patients reflects true prevalence, including cases not yet diagnosed or not yet captured by the Consortium registry. Sizing a commercial opportunity against the 350-450 figure without accounting for the diagnostic and registry-capture gap would overstate the near-term reachable population; the roughly 200-patient confirmed cohort, managed at NHS's 8 Highly Specialised Service centres, is the base a launch plan should size against.
Within that confirmed cohort, the addressable market narrows further. Alglucosidase alfa treats roughly 180 patients directly, and an estimated 30 to 50 of them are anti-drug-antibody-positive with documented clinical deterioration despite therapy, the subgroup best positioned for a differentiated NICE submission. A separate, overlapping subgroup of 80 to 120 patients, those with FVC below 50 percent predicted on home non-invasive ventilation, represents the highest-urgency clinical need and the strongest evidence base for a new agent. Both subgroups sit inside the roughly 200-patient confirmed population, not the broader 350-450 prevalence estimate, and both require an active identification programme, since NICE has no eligible cohort to assess without documented ADA-titre and ventilation-dependency data.
UK Pompe sizing — confirmed registry count versus broader prevalence estimate
| Sizing Method | Population Estimate | Source |
|---|---|---|
| Registry-based (confirmed, active shared care) | ~200 patients | UK Pompe Consortium registry 2023 |
| Prevalence-based (including undiagnosed) | 350-450 patients | NHS England Pompe Highly Specialised Service estimates |
| ADA-positive inadequate responders | 30-50 patients within the confirmed cohort | BIMDG Pompe subcommittee / Royal Free London outcomes data |
| Home-NIV subgroup | 80-120 patients within the confirmed cohort | UK Pompe Consortium outcomes registry 2023 |
Sources: UK Pompe Consortium registry 2023; NHS England Pompe Highly Specialised Service specification 2022; BIMDG Pompe subcommittee guidance; Royal Free London metabolic service published outcomes; UK Pompe Consortium outcomes registry 2023.
What this model answers
Every section answers a named commercial question your team is asking, scoped to your asset.
- Why do UK Pompe patient counts range from roughly 200 to 350-450 across sources, and which should a commercial model size against? • The UK Pompe Consortium registry's confirmed-case scope versus the broader true-prevalence estimate • why the confirmed 200-patient cohort is the correct sizing base for near-term planning
- Which subgroup within the confirmed population is genuinely addressable by a new agent? • The 30-50 patient ADA-positive inadequate-responder estimate • the 80-120 patient home-NIV subgroup • why both, not the full confirmed cohort, define the addressable market
- Does the addressable total depend more on the registry-capture rate or the ADA-positive rate? • Sensitivity ranking of every sizing input • why the ADA-positive rate outranks registry-capture assumptions as the binding constraint on the addressable total
What's inside
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1 · The Binding Constraint 2 pp
- Why the confirmed 200-patient cohort, not the broader 350-450 prevalence estimate, is the correct sizing base
- Pressure-tested against the registry-vs-prevalence gap before the rest of the model is built out
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2 · Registry-Based Sizing 3 pp
- UK Pompe Consortium confirmed-case count (~200) and its shared-care methodology
- Cross-check against the broader prevalence estimate
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3 · Prevalence-Based Sizing 3 pp
- The 350-450 total estimated prevalence figure and what it captures beyond the registry
- Why it overstates near-term reachable population if used alone
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4 · Subgroup Segmentation — ADA-Positive & Home-NIV Cohorts 3 pp
- The 30-50 patient ADA-positive inadequate-responder estimate
- The 80-120 patient home-NIV subgroup and its FVC threshold
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5 · Sensitivity Analysis 3 pp
- ADA-positive rate ranked above registry-capture rate as the binding assumption
- Scenario ranges tied to ADA-testing programme rollout
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6 · Editable Excel Model —
- The full triangulated model, re-runnable with your own assumptions
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7 · Client Alignment Questions 2 pp
- The open sizing questions your team must close before the number is used in planning
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 Pompe disease market sizing models built for forecasting and strategy teams sizing the UK LOPD opportunity. Custom model in 72 hours.
- 1. Submit your requestSpecify your indication, market, and cohort definition.
- 2. Scoping callAXLRx analyst confirms triangulation methods and comparator set before building.
- 3. DeliveryResearch-verified sizing 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 market sizing model triangulates at least two independent methods, registry-based and prevalence-based, before accepting a patient count. This is explicitly a sizing model (static patient count), distinct from a Patient Flow or forecasting model (dynamic revenue/uptake).
Pompe UK sizing sources: UK Pompe Consortium registry 2023, NHS England Pompe Highly Specialised Service specification 2022, BIMDG Pompe subcommittee guidance, and Royal Free London metabolic service published outcomes.
- Confirmed registry count verified against UK Pompe Consortium registry 2023
- Broader prevalence estimate verified against NHS England Pompe Highly Specialised Service specification 2022
- ADA-positive and home-NIV subgroup estimates verified against BIMDG Pompe subcommittee guidance and Royal Free London published outcomes
Frequently asked questions
Deliverables What formats are included with every model?
Every commissioned Market Sizing Model includes an editable 5-sheet Excel model (Cover, Model, Research Validation, QC, Sensitivity) and a PDF methodology brief. No PowerPoint deck ships with this model type, since it is built to be worked in directly, not presented from. An optional 45-minute analyst readout call is included.
Sources How is the patient count verified?
AXLRx triangulates every UK sizing estimate across at least two independent methods, the UK Pompe Consortium registry count and a prevalence-based build cross-checked against the NHS England Highly Specialised Service specification, before it ships.
Customisation Can I size a specific UK nation or subpopulation?
Yes. The intake form captures your indication, target market, and cohort definition. A scoping call confirms scope before research starts. Commission via the intake form to start.