We build a living, source-linked map of the rare disease and the ecosystem around it. Then we apply it to the decision in front of you: refining a target product profile or finding what blocks adoption, market by market.
Core offering
Build the disease evidence base for your next decision.
Patient pathways, treatment centres, competition and reimbursement, mapped through research and expert validation.
Explore rare disease landscaping
Keep it current
Keep your landscape current with the developments that matter, without starting again.
Explore living intelligenceTest the decision
Test TPP, pricing and launch questions with clinicians and disease specialists.
Access our expert network
Rare disease landscaping is the foundation. TPP validation and barrier and driver analysis go deeper. Each service draws on the same source-linked evidence and stakeholder network, scoped to your decision.
Start with the science, then the system it has to move through.
We begin with the disease itself: biology and subtypes, natural history, endpoints and biomarkers, and where the published evidence is thin, contested or out of date. From there we map how patients are diagnosed and referred, which centres treat them, and which specialists, researchers and patient organisations are relevant to your research question.
Only then do we set out what this means for medical strategy, evidence planning and, where relevant, commercial choices. Stakeholder perspectives are gathered directly, and we record where the field disagrees rather than smoothing it into a single answer.
How the disease splits into subtypes and phenotypes, how incidence and prevalence differ between them, and what that means for population sizing and trial feasibility.
What is known about progression, which endpoints and biomarkers are accepted or contested, and where the evidence base is thin, conflicting or outdated.
Who is developing what, which modalities are moving, and where programmes were discontinued or handed back, including the reasons behind the exits. What programmes failed or were stopped earlier?
A plain-language read of the conditions around the disease: the state of the science, how patients are found, the regulatory route, research funding and the capacity of treating centres, with what would need to change in each.
Per country, the route from first symptom to treated care, which centres diagnose and treat, how referral works in practice, and where patients are delayed or lost.
Clinicians, researchers, treating centres and patient organisations selected for their relevance to your research question: disease and subtype focus, clinical or research experience, geography and role in the pathway, rather than prominence alone.
AI widens the search across publications, trials and guidelines; our specialists check each finding against its source. Experts review and select the evidence against the criteria above.
Structured interviews that test the desk research, surface where experts disagree, and record the questions the field itself considers unresolved.
Published evidence is cited to its source, stakeholder observations are attributed as views rather than fact, and Systemix interpretation is labelled as such. Conflicting findings and uncertainty are documented rather than resolved by assumption.
What carries and what blocks per stakeholder group, and the moves we recommend first for positioning, evidence generation and sequencing.
Every figure resolves to a cited source, uncertainty is flagged rather than smoothed, and the landscape is refreshed as trials, funding and guidance change.
Scope and timing are agreed around your research question, priority markets and stakeholder groups; a focused engagement typically runs 6–10 weeks · deliverable: the landscape report plus a working session with your team · the evidence base is updated continuously, with a review agreed with you twice per year as part of scope, and relevant signals reach your programme earlier · starts from a 45-minute scoping call
Test the assumptions in the profile before the trade-offs are locked.
A TPP is only as strong as its fit with the ecosystem it has to land in. Clinicians, payers and patients each weigh efficacy, safety, convenience and value differently, and those thresholds are easy to misjudge from inside.
We engage those stakeholders to test each attribute of your profile, surface the trade-offs they raise, and identify the questions your development and evidence plan still needs to answer. This is stakeholder research: it informs how you refine the profile. It does not predict adoption or establish clinical effectiveness.
How each TPP attribute is perceived across clinical, payer and patient stakeholders.
How clinicians, payers and patients hear the overall profile in their own framing, including the doubts and reframings a scored questionnaire tends to miss.
Which compromises stakeholders say they would accept, which they would resist, and where they disagree with each other.
How your profile compares to the alternatives in stakeholders' own framing.
Clear, evidenced recommendations for sharpening the TPP and the evidence plan behind it.
Scope and timing are agreed around your research question, priority markets and stakeholder groups · deliverable: an attribute-by-attribute read of the profile and a revised TPP recommendation · requires your current TPP under CDA
Understand the local barriers shaping rare-disease adoption.
Adoption in rare disease is shaped locally, for therapies, devices and diagnostics alike: how patients are diagnosed and referred, which centres and specialists carry the pathway, and what evidence each stakeholder group expects to see. Those conditions differ market by market, and the differences are hard to read from a central position.
We investigate them with the people close to the pathway, set out what we find and how confident we are in it, and prioritise the questions your teams need to address next. Our work provides research and stakeholder insight to inform your access strategy. Specialist pricing, reimbursement submissions and HTA dossier development are scoped separately with the appropriate expertise.
Where patients are missed, delayed or referred elsewhere, and what stands in the way of earlier identification.
Which centres and specialists carry the pathway, how they work together, and what governs their treatment choices.
What clinicians, payers and patient representatives say they need to see, and where their expectations differ from each other.
How pathways, evidence expectations and local conditions vary across the markets in scope.
The findings we judge most consequential, the uncertainty attached to each, and the questions your teams should address next.
Deliverable: a prioritised barrier and driver register per market, with findings, uncertainties and implications
Whether you're preparing a rare disease programme, establishing your European medical strategy or exploring a new geography, we can help you build the evidence foundation for informed planning.
