700-900 UK NHS-diagnosed Fabry patients split 600 on enzyme replacement to roughly 200 on oral migalastat, and free cascade testing adds 3-4 diagnosed relatives per index case.
The UK Fabry disease population, an estimated 700-900 patients, is diagnosed and managed almost entirely through NHS Highly Specialised Services at lysosomal storage disorder centres, with 300-400 of that total being female heterozygotes rather than carriers-only. Treatment splits along a clear line: roughly 600 patients remain on intravenous enzyme replacement therapy, primarily agalsidase beta, which has never gone through a formal NICE technology appraisal and is instead commissioned via NHS clinical policy. Approximately 200 patients, about 25% of the diagnosed population, are on oral migalastat, recommended by NICE under its Highly Specialised Technology route (HST4) for patients whose GLA mutation is confirmed amenable via HEK cell assay.
The funnel's most distinctive UK feature is how new patients enter it. The NHS Genomic Medicine Service offers free GLA gene testing for probands and first-degree relatives once an index case is confirmed, and this cascade pathway yields 3-4 additional diagnosed relatives per index case, consistent with international data but delivered at a scale that gives the UK one of the highest per-capita Fabry diagnosis rates in Europe. That cascade yield, not primary case-finding alone, is what sustains the funnel's growth and shapes how quickly the amenable-mutation, migalastat-eligible pool expands over time.
UK Fabry funnel — from NHS-diagnosed population to treatment mechanism
| Funnel Stage | Population | Source |
|---|---|---|
| NHS-diagnosed Fabry disease patients (UK) | 700-900 | Royal Free London National Fabry Service census; NICE HST4 / TA915 decision documents |
| Female heterozygotes (subset of diagnosed) | 300-400 of 700-900 | Royal Free London National Fabry Service census |
| On enzyme replacement therapy (agalsidase beta) | ~600 | UK Fabry Outcome Survey 2023; NHS clinical commissioning policy |
| On oral migalastat | ~200 (25% of diagnosed) | NICE HST4 (2016); UK Fabry Outcome Survey 2023 |
| Additional relatives diagnosed per index case (NHS GMS cascade testing) | 3-4 | UK Fabry Outcome Survey cascade data; NHS Genomic Medicine Service |
Sources: Royal Free London National Fabry Service census; NICE HST4 Final Evaluation Determination (migalastat, 2016); NICE TA915 (pegunigalsidase alfa); UK Fabry Outcome Survey 2023; NHS clinical commissioning policy (agalsidase beta); NHS Genomic Medicine Service GLA panel documentation.
What this model answers
Every section answers a named commercial question your team is asking, scoped to your asset.
Delivers
- 700-900 diagnosed patients
- the ~600 ERT versus ~200 (25%) migalastat treatment split
- the 300-400-patient female heterozygote subgroup
Delivers
- 3-4 additional relatives diagnosed per index case
- the free GLA gene-testing pathway
- why this gives the UK the highest per-capita Fabry diagnosis rate in Europe
Delivers
- 8-sheet structure (Strategic Context, Inputs, Model, Projections, Sensitivity, References, Market Context, QC)
- formula count, zero hardcoded cells
- UK FOS / NICE HST4 / NHS commissioning source citation per step
Custom model delivered in 72 hours.
Commission This ModelWhat's inside
- Why cascade-testing yield, not primary case-finding, drives funnel growth
- Pressure-tested against UK Fabry Outcome Survey trend data
- 700-900 NHS-diagnosed UK Fabry patients (UK FOS / NICE decision documents)
- The 300-400-patient female heterozygote subgroup
- Free GLA gene testing pathway for probands and first-degree relatives
- 3-4 additional relatives diagnosed per index case
- HEK cell assay confirmation for oral migalastat eligibility
- How amenability stratifies the diagnosed pool
- 600 patients on enzyme replacement (NHS clinical policy)
- ~200 patients (25%) on oral migalastat (NICE HST4)
- Which cascade-yield and amenability assumptions move the eligible pool most
- Scenario ranges across ERT and oral pathways
- Patient volume by horizon under conservative, base, and aggressive scenarios
- Revenue translation inputs
- Open questions your forecasting team must close before the model is finalized
- Structured for an internal forecast-review session
Included with every brief
How AXLRx builds this model
Prepared by MoatRx analysts.
Every AXLRx patient flow model is built on a five-layer funnel: population, disease burden (E1), diagnosis and capture (E2), treatment and mutation eligibility (E3), market access (E4), then Year 1-3-5 projections across three scenarios. Delivered as a live Excel workbook, not a static table: 111 formulas across 8 sheets, zero hardcoded cells.
UK Fabry disease sources: Royal Free London National Fabry Service census data, NICE HST4 Final Evaluation Determination (migalastat, 2016), NICE TA915 (pegunigalsidase alfa), UK Fabry Outcome Survey 2023, NHS England clinical commissioning policy for agalsidase beta, and NHS Genomic Medicine Service GLA cascade-testing documentation.
- NHS-diagnosed UK Fabry population and female-heterozygote subgroup verified against Royal Free London National Fabry Service census data
- ERT versus oral migalastat treatment split verified against UK Fabry Outcome Survey 2023 and NICE HST4 Final Evaluation Determination
- NHS GMS cascade-testing yield verified against UK Fabry Outcome Survey cascade data
- Agalsidase beta's NHS clinical-policy commissioning basis (no formal NICE technology appraisal) confirmed directly against NHS England policy documentation
Frequently asked questions
Commission this model
AXLRx delivers rare disease patient flow models built for forecasting and launch teams sizing the UK Fabry disease opportunity. Custom model in 72 hours.
Specify your indication, market, and cohort definition.
AXLRx analyst confirms funnel scope and comparator set before building.
Research-verified patient flow model in 72 hours with optional analyst readout.