Every AXLRx Pompe Disease report, across 9 report types and 3 markets. Each is scoped to your asset and verified to a live source.
Two next-generation ERTs, avalglucosidase alfa and cipaglucosidase alfa plus miglustat, move to displace alglucosidase alfa across the US late-onset Pompe market.
GAA-deficiency biology, the LOPD-versus-IOPD split, the years-long diagnostic delay, and newborn screening across the US Pompe population.
Pompe ERT costs near $400,000 a year in Part B, Pombiliti + Opfolda splits into two simultaneous prior authorisations across Part B and Part D, and Pompe remains the only major rare-disease ERT category ICER has never reviewed.
The UK Pompe Consortium's shared-care network, a 3–8 year late-onset diagnostic delay, and the ~25% inadequate-ERT-responder subset defining the next-generation enzyme-replacement opportunity.
The UK Pompe Consortium registry counts roughly 200 confirmed patients. Total estimated prevalence, including the undiagnosed pool, runs 350-450. Within the confirmed, treated population, 30-50 are ADA-positive inadequate responders and 80-120 are on home ventilation.
Total GCC Pompe prevalence runs 400-600, consanguinity-elevated. 200-300 are actively managed on ERT, and NPHC's formulary budget centers on a narrower 80-120 long-term-stable core within that population.
Nexviazyme beat Lumizyme on 6-minute-walk distance in COMET — but NPHC hasn't set switch criteria, so 80-120 GCC ERT patients mostly stay on the 2006-era standard.
Avalglucosidase's NICE recommendation (TA821) versus entrenched alglucosidase alfa. NHS switch criteria and the Pombiliti queue position define the next 18 months of UK access.
NHS England's Pompe commissioning-policy continuation criteria define a 45-50 patient switch-eligible cohort for avalglucosidase alfa (NICE TA821) — a manageable NHS budget event, while broader first-line uptake would be a materially larger one.
5,000-10,000 Americans live with Pompe disease. Roughly 2,000 late-onset patients are on enzyme replacement therapy, and 375-600 of them, one in four, are inadequate responders, the subtype this model is built to size.
350-450 UK Pompe disease patients, of whom roughly 200 form the registry-confirmed cohort. One in four long-term ERT patients is not holding stable, the segment this model is built to size.
400-600 GCC Pompe disease patients, of whom 200-300 are on enzyme replacement therapy. Just 40-60, patients with FVC decline despite alglucosidase already on home ventilation, are the segment this model is built to size.
A five-centre UK Pompe Consortium and an eight-centre NHS Highly Specialised Service network concentrate expertise around a six-physician BIMDG subcommittee that advises NICE directly. That kind of institutional concentration is exactly what this workbook sizes before any individual name enters it.
Six to eight named metabolic centres across the GCC hold enzyme replacement therapy infusion capacity for Pompe disease, led by KFSH&RC's roughly 120-patient, 15-year treatment experience. That kind of institutional concentration is exactly what this workbook sizes before any individual name enters it.
The newborn screening expansion for infantile-onset Pompe, the late-onset limb-girdle diagnostic detour, and the ERT infusion access gap across GCC metabolic centres.
NICE accepts a £100,000-300,000 QALY threshold for ultra-rare Pompe disease under its Highly Specialised Technologies pathway, five to fifteen times the £20,000-30,000 bar a standard technology appraisal applies. Avalglucosidase alfa's TA821 recommendation used that ceiling, but only with a substantial confidential commercial arrangement. A new entrant without that leverage should build a standalone case for the antibody-positive inadequate-responder subgroup instead.
Why NPHC's well-established Pompe programme still gates avalglucosidase behind a 12-month failed-response switch criterion — and why Sanofi is pursuing NPHC first-line approval to bypass it.
375–600 US LOPD patients are failing next-gen ERT — ADA superiority and first-line labeling decide who can reach them.
A new-entrant ERT cannot compete on NPHC-covered alglucosidase alone — the constraint is the NPHC step-edit plus Sanofi's entrenched home-infusion relationship at KFSH&RC, which any entrant must replicate from a standing start.
Pompe ERT WAC runs near $400,000 a year, and the Pombiliti + Opfolda regimen splits across Medicare Part B and Part D. Zero ICER reviews exist today, with one expected in 2025 and a 12-month J-code lead time for any new entrant.
NHS-commissioned alglucosidase alfa runs £200,000-350,000 per patient a year post-PAS. Avalglucosidase alfa's NICE TA821 recommendation carries a 20-30% WAC premium and a switch-population budget impact of just £2-4M a year.
NPHC's annual Pompe ERT budget runs SAR 100-160M across 80-120 patients, at SAR 800K-1.2M for alglucosidase versus SAR 1.2-1.8M for avalglucosidase. A new entrant should target SAR 2.0-2.5M a year, with switch approvals clearing at only 40-60%.
US Pompe prevalence runs 5,000 to 10,000 patients, 70-80% late-onset. Of the roughly 2,000 LOPD patients on enzyme replacement therapy, 375 to 600 are inadequate responders, the addressable population any new agent must reach.
Why an ADA-positive-specific NICE case beats competing on incremental FVC improvement against alglucosidase, the 80-120 NIV-dependent LOPD patients who are the highest-urgency target, and the BIMDG partnership that shapes NICE's evidence bar.
AXLRx publishes Competitive Intelligence, Disease Landscape, Payer & HTA, Market Sizing Model, Patient Flow Model, KOL Mapping, HTA Strategy Model, Launch Readiness, and Pricing Strategy Model for Pompe Disease (Late-Onset). Each report is scoped to your asset, verified to a live source, and delivered in 72 hours.
Current Pompe Disease coverage spans United States, United Kingdom, and GCC (Gulf). Additional markets can be commissioned against the same evidence standard.
Every figure is cited to a live source at the point of writing and re-checked in an independent audit pass. The latest Pompe Disease reports were updated July 2026.