A single NIH-sourced count of 6,000 US Type 1 Gaucher patients prices out near $1.8 billion at ERT rates, but the same population sits inside an Ashkenazi carrier-frequency band that a sizing model has to reconcile before the number is used in planning.
Gaucher disease type 1 accounts for more than 90 percent of all Gaucher cases, and MedlinePlus Genetics (NIH) estimates roughly 6,000 people live with Type 1 Gaucher disease in the US. That population sits almost entirely inside a genetic sub-segment: general-population disease frequency runs just 0.70 to 1.75 per 100,000, while Ashkenazi Jewish carrier frequency runs roughly 1 in 12 to 15, a concentration that any patient-times-price sizing model must reconcile rather than average away. A model built only on the general-population rate would understate the US Type 1 count; a model built only on the Ashkenazi-specific rate would overstate it outside that founder population.
Applied against approximate annual therapy cost, the 6,000-patient count sizes two ceiling scenarios rather than one blended number. At roughly $300,000 a year for intravenous enzyme replacement therapy, the full population prices out near $1.8 billion; at eliglustat's $310,250 annual WAC for oral substrate reduction therapy, the same population prices out near $1.86 billion. Neither ceiling is the real market, because patients split across enzyme replacement and substrate reduction rather than concentrating on one mechanism, so this model treats the ERT-versus-SRT mix as a scenario input to confirm with the client, not an assumption to bury inside a single point estimate.
Gaucher disease US Type 1 TAM — patient count times price, by mechanism
| Mechanism | Annual Price | Patient Population | TAM Ceiling |
|---|---|---|---|
| IV enzyme replacement therapy (100% scenario) | ~$300,000/year | 6,000 (NIH estimate) | ~$1.8 billion |
| Oral substrate reduction therapy — eliglustat (100% scenario) | $310,250/year WAC | 6,000 (NIH estimate) | ~$1.86 billion |
| Ashkenazi sub-segment cross-check | — | Carrier frequency 1 in 12–15 vs 0.70–1.75/100,000 general population | Directional check, not a patient count |
Sources: MedlinePlus Genetics (NIH), Gaucher disease; Nalysnyk L et al. Hematology 2016 (PMID 27762169); Balwani M et al. Arch Intern Med 2010 (PMID 20837833); Boston Globe 2014 (eliglustat launch WAC); UnitedHealthcare and Blue Cross Blue Shield Gaucher ERT medical coverage policies (2025-2026).
What this model answers
Every section answers a named commercial question your team is asking, scoped to your asset.
Delivers
- MedlinePlus Genetics (NIH) population estimate
- the general-population-versus-Ashkenazi carrier-frequency cross-check
- where the two views agree and where they diverge
Delivers
- Patient-times-price TAM math at ~$300,000/year ERT and $310,250 eliglustat WAC
- the gap between the two ceilings and what drives it
Delivers
- A scenario-based ERT-versus-SRT sizing view
- the client-alignment questions needed to convert scenario ranges into a single planning number
Custom model delivered in 72 hours.
Commission This ModelWhat's inside
- Why the Ashkenazi carrier-frequency sub-segment, not the headline patient count alone, decides whether 6,000 is the right planning number
- Pressure-tested against the general-population disease frequency of 0.70-1.75 per 100,000 before the rest of the model is built out
- MedlinePlus Genetics (NIH) estimate of roughly 6,000 US Type 1 Gaucher patients
- Why more than 90% of all Gaucher cases being Type 1 matters for how this count is framed
- Ashkenazi Jewish carrier frequency of 1 in 12-15 set against general-population disease frequency of 0.70-1.75 per 100,000
- What the gap between the two rates implies about where the 6,000-patient count concentrates
- Patient-times-price math at approximately $300,000 a year for IV enzyme replacement therapy
- The same population priced at eliglustat's $310,250 annual WAC for oral substrate reduction therapy
- Illustrative ERT-versus-SRT treatment-mix scenarios, not a single asserted split
- How the blended TAM moves as the mechanism mix shifts
- Patient count ranked against price and mechanism mix as the assumptions most likely to move the total
- Scenario ranges tied to each input
- The full triangulated model, re-runnable with your own assumptions
- The open sizing questions your team must close before this number is used in planning
Included with every brief
How AXLRx builds this model
Prepared by MoatRx analysts.
Every AXLRx market sizing model triangulates at least two independent methods, direct population estimates and epidemiology-based sub-segment cross-checks, before pricing out a patient population. This is explicitly a sizing model (static patient count and TAM math), distinct from a Pricing Strategy or Launch Readiness model.
Gaucher disease US sizing sources: MedlinePlus Genetics (NIH) for the Type 1 patient count, Nalysnyk et al. Hematology 2016 (PMID 27762169) for the Type 1 case share, Balwani et al. Arch Intern Med 2010 (PMID 20837833) for Ashkenazi Jewish carrier frequency, and Boston Globe 2014 reporting plus payer coverage policy for ERT and eliglustat pricing.
- US Type 1 patient count (6,000) verified against MedlinePlus Genetics (NIH)
- Type 1 case share (>90%) verified against Nalysnyk et al. Hematology 2016 (PMID 27762169)
- Ashkenazi Jewish carrier frequency (1 in 12–15) verified against Balwani et al. Arch Intern Med 2010 (PMID 20837833)
- ERT annual cost (~$300,000) and eliglustat launch WAC ($310,250) verified against payer coverage policy and Boston Globe 2014 reporting
Frequently asked questions
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AXLRx delivers rare disease market sizing models built for forecasting and strategy teams sizing the US Gaucher Type 1 opportunity. Custom model in 72 hours.
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