A static, triangulated patient-count model, not a forecast: 5-sheet workbook (Cover, Model, Research Validation, QC, Sensitivity), every input sourced and re-runnable. Sizing answers how many patients exist today; forecasting is a separate question.
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.
US SMA sizing splits into two live populations, not one number. 8,000-10,000 prevalent patients across Types 1-4, and a separate 500-700-patient Zolgensma-treated cohort now aging into a monitoring window where 15-20% show early motor plateau.
An estimated 8,000-9,000 Americans have HAE, and only 35-40% receive any prophylaxis. That leaves 2,500-4,000 attack-eligible patients never treated, a pool nearly as large as the entire treated population.
A 37-centre national survey confirms 1,152 UK HAE type I/II patients. A top-down 1:32,000 prevalence rate implies roughly 2,000, and the UK HAE Alliance's broader planning estimate runs to 5,000-6,000, of which only 1,500-2,000 are on prophylaxis today.
The UK SMA population is not one number. A ~1,000-patient actively-monitored NHS cohort and a 1,800-2,000-patient total prevalence estimate both appear across UK sources, and the gap between them is the pre-NBS legacy population outside the four specialist networks' active census.
France's PMSI hospitalisation database identified 897 PNH patients between 2018 and 2022, putting prevalence near 1 in 94,000. That is below the 1-in-70,000-to-80,000 range Orphanet and France's national rare disease plan have long cited.
Roughly 5,000-10,000 diagnosed US Fabry patients split first by GLA amenability, with 35-50% oral-eligible. ADA status narrows that to a precise 200-400 patient addressable niche, which a Fabrazyme-anchored $250-350K WAC makes commercially calculable.
US Dravet incidence of 1 in 15,700 births is consistent with the Dravet Syndrome Foundation's 6,000-8,000 prevalence estimate. Only 35-40% of that population, 1,400-2,000 patients, remains inadequately controlled on today's two branded agents.
Near-universal newborn screening puts the UK's 15,000-17,000 SCD patients on the registry with confidence. But only the 4,000-6,000 hydroxycarbamide-inadequate subset is the addressable population for a new non-gene agent.
GCC SMA incidence runs 1:6,000-8,000 against a global 1:10,000. Newborn-screening coverage splitting 90%/85%/75% across KSA, UAE and Qatar means the addressable near-term population depends on which country's screening curve a launch model assumes.
Epidemiology implies 1,200-1,500 true GCC HAE patients, but the KFSH&RC registry confirms fewer than 200. A separate planning estimate used for launch work lands at 400-600 — three numbers, one diagnostic-capacity story.
316,950 annual US invasive breast cancer diagnoses and a 6.0% metastatic-at-diagnosis rate size the incident flow. Layering CDK4/6-inhibitor and post-progression pricing onto that flow, and onto the separate, larger recurrence pool, is what turns a patient count into a market value.
GCC gMG sizing treats the 6,000-10,000-patient disease-landscape prevalence estimate as the authoritative broad base. A 200-300-patient refractory subgroup, fewer than 50 currently on a biologic, is the narrower actionable segment inside it, not a competing total.
6.7 million Americans have F2-F3 MASH, but Rezdiffra has already reported 42,250+ patients on therapy and $311.3M in Q1 2026 revenue. This model triangulates population against real uptake, not a modeled guess.
IQVIA puts the 2023 US T2D drug market at $22B top-down. Triangulated bottom-up against 29.7M diagnosed patients out of 38.4M with the disease, the two methods converge, but per-class revenue split remains an open gap this model flags rather than invents.
Germany's DGHO Onkopedia guideline states plainly that Germany-specific PNH prevalence and incidence figures do not exist. It borrows 16 cases and 1.3 new diagnoses per million annually from British and French registries, and routes all case-finding through just two national centres, Ulm and Essen.
A GCC nephrology network capacity survey estimates 8,000-12,000 IgA nephropathy patients across the region. The same survey finds kidney biopsy performed in fewer than 30% of eligible proteinuric patients, and zero patients on any SFDA-registered novel agent as of 2024.
The UK's NICE-commissioned Dravet algorithm manages an estimated 2,000-2,500 patients on cannabidiol and fenfluramine. The NHS genetic testing registry logs only 400-500 molecularly SCN1A-confirmed cases — a registry-scope gap, not a population contradiction.
GCC Dravet prevalence is estimated at 600-800 patients, but fewer than 200 are molecularly SCN1A-confirmed. The 200-400 figure used in launch planning is a distinct near-term actionable tier, not a fourth competing total.
GCC ATTR-CM burden runs 15,000-25,000 on a broad HFpEF-adjacent estimate, or 2,000-5,000 on the narrower ATTRwt-CM cohort. Fewer than 8 centres with scintigraphy capacity explain why so little of either total converts to a confirmed diagnosis.
Two UK gMG estimates disagree by 3-4x on purpose. A narrower moderate-severe subgroup of roughly 4,000 from the MGA UK survey sits inside a broader 12,000-15,000 total prevalence figure that also counts mild, well-controlled cases the narrower estimate excludes.
US cold agglutinin disease sizing starts from a rate range, not a point estimate. Incidence 0.6-1.2 and 1-year prevalence 1.4-3.1 per 100,000 imply ~5,000 prevalent patients. No published treated-share figure exists to split served from total addressable.
6,000 US Type 1 Gaucher patients size a market near $1.8 billion at ERT pricing. That MedlinePlus-sourced population sits inside a genetic sub-segment where Ashkenazi carrier frequency runs 1 in 12-15, against a general-population disease frequency of just 0.70-1.75 per 100,000.
The Leeds National PNH Registry tracks about 600 UK patients on complement-inhibitor therapy. A broader estimate cited in AXLRx's own Launch Readiness research puts it near 1,500 total patients and 1,000 treated. Reconciling which count anchors a sizing model is the open question.
US PNH prevalence spans 15,000 to 20,000 patients across three phenotypes, but only about 3,500 are on complement-inhibitor therapy. A 2.4-year average diagnostic delay, plus 200 to 400 patients a year undertreated at non-PNH centres, accounts for most of that gap.
An estimated 150,000 Americans have IgA nephropathy, but only 70,000-90,000 are biopsy-confirmed. Just 5,000-8,000 are on a disease-specific therapy today, within a 15,000-25,000-patient high-risk eligible cohort.
The UK Renal Registry tracks about 8,000 IgA nephropathy patients against an estimated 10,000-15,000 total prevalence. Only 3,000-5,000 are eligible for a novel agent, and fewer than 500 currently receive one.
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.
Saudi Arabia's rare disease registry counts about 400 confirmed PNH cases. Global prevalence rates, adjusted for the region's 25-50% consanguinity rate, imply a true GCC PNH population 20-30% higher, and fewer than 15 labs across six countries can even run the diagnostic test.
700-900 diagnosed UK Fabry patients split roughly 600 on ERT to 200 on oral therapy. Two niches sit inside that: 50-80 ADA-positive suboptimal responders and 80-120 undertreated symptomatic female heterozygotes, against a £144M NHS spend anchor.
200-300 diagnosed GCC Fabry patients sit against a true prevalence estimated 3-5 times higher. A single regional laboratory gates the amenable-mutation test, and female heterozygotes are diagnosed at under half the male rate.
A ~100,000-patient US SCD population narrows to a 55,000-65,000-patient addressable white space. Only 50-100 gene-therapy patients were actually treated in the first 12 months, versus 200-300 projected.
An estimated 500,000+ US patients aged 70+ have undiagnosed ATTRwt-CM, against only 70,000-100,000 currently diagnosed and treated. A separate 100,000+ Val122Ile hereditary carrier pool sits alongside it.
National Amyloidosis Centre-anchored epidemiology puts UK ATTRwt-CM prevalence at 20,000-40,000. Only 3,000-4,000 patients are on NICE-commissioned tafamidis today, leaving 15,000-36,000 undiagnosed.
US gMG prevalence runs 100,000-200,000, but only 4,000-6,000 patients are on FcRn therapy today. 1,200-2,100 of those remain inadequately controlled. The near-term opportunity is the funnel gap, not the epidemiology total.
Carrier-rate-adjusted epidemiology implies 140,000-200,000 KSA sickle cell patients. NPHC's structured active-management programme reaches only 8,000-10,000 — a care-registration gap, not a measurement error.
An editable 5-sheet Excel sizing model and a PDF methodology brief, with a 45-minute analyst call included. No PowerPoint deck — this deliverable is built to be worked in directly.
Every input is triangulated across at least two independent sources (epidemiology-based and claims/registry-based) — no single-source number ships unverified.
Yes. You set the market, cohort definition, and comparators; the model is built to your scope and delivered editable.