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.
US gMG prevalence runs 100,000-200,000, but only 4,000-6,000 patients are on FcRn therapy today, and 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 patients, but NPHC's structured active-management programme reaches only 8,000-10,000, a care-registration gap, not a measurement error.
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; only 35-40% receive any prophylaxis, leaving 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.
GCC SMA incidence runs 1:6,000-8,000 against a global 1:10,000, and newborn-screening coverage splitting 90%/85%/75% across KSA/UAE/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; the KFSH&RC registry confirms fewer than 200; and a separate planning estimate used for launch work lands at 400-600 — three numbers, one diagnostic-capacity story.
The UK's NICE-commissioned Dravet treatment algorithm manages an estimated 2,000-2,500 patients on cannabidiol and fenfluramine, but 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 from epidemiology, but fewer than 200 are molecularly SCN1A-confirmed, and 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 by broad HFpEF-adjacent estimate, or 2,000-5,000 by the narrower near-term-addressable ATTRwt-CM cohort, and fewer than 8 centres with scintigraphy capacity explain why so few 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 (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.
GCC gMG sizing treats the 6,000-10,000-patient disease-landscape prevalence estimate as the authoritative broad base, with a 200-300-patient refractory subgroup, fewer than 50 currently on a biologic, as the narrower actionable segment inside it, not a competing total.
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.
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.
A GCC nephrology network capacity survey estimates 8,000-12,000 IgA nephropathy patients across the region, but the same survey finds kidney biopsy performed in fewer than 30% of eligible proteinuric patients, and zero patients are on any SFDA-registered novel agent as of 2024.
The Leeds National PNH Registry tracks about 600 UK patients on complement-inhibitor therapy, but AXLRx's own Launch Readiness research cites a broader estimate near 1,500 total patients and 1,000 treated. Reconciling which count anchors a sizing model is the open question.
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.
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, implying ~5,000 prevalent patients. No published treated-share figure exists to split served from total addressable.
The MedlinePlus-sourced count of 6,000 US Type 1 Gaucher patients sizes a market near $1.8 billion at ERT pricing, and the same 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.
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.
France's PMSI national hospitalization database identified 897 PNH patients between 2018 and 2022, putting 2022 prevalence near 1 in 94,000, below the 1-in-70,000-to-80,000 range Orphanet and France's national rare disease plan have long cited.
An estimated 150,000 Americans have IgA nephropathy, but only 70,000-90,000 are biopsy-confirmed and 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 actively 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.
Roughly 5,000-10,000 diagnosed US Fabry patients split first by GLA amenability (35-50% oral-eligible) and then by ADA status, narrowing to a precise 200-400 patient addressable niche that a Fabrazyme-anchored $250-350K WAC makes commercially calculable.
US Dravet syndrome incidence of 1 in 15,700 births is consistent with the Dravet Syndrome Foundation's 6,000-8,000 prevalence estimate, but only 35-40% of that population, 1,400-2,000 patients, remains inadequately controlled on today's two branded agents.
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 ERT to 200 oral, inside which two further niches sit: 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 against a true prevalence estimated 3-5 times higher, undercounted because 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 population narrows to a 55,000-65,000-patient addressable white space, but 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.
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.
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 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.
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.