Rare disease consulting built for specialist teams

• Disease and subtype architecture

  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.

• Natural history, endpoints and biomarkers

  What is known about progression, which endpoints and biomarkers are accepted or contested, and where the evidence base is thin, conflicting or outdated.

• Trials, pipeline and sponsor behaviour

  Who is developing what, which modalities are moving, and where programmes were discontinued or handed back, including the reasons behind the exits.

• Where the field stands today

  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.

• Diagnosis, referral and treatment pathways

  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.

• Relevant experts, centres and patient organisations

  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.

• How Mappiq supports the search

  Mappiq is our own search and tracking tool. In plain terms, it gathers publication, trial, conference and guideline records in one place so we can find and keep track of the specialists and centres active in a disease. People are then reviewed and selected by our team against the criteria above.

• Stakeholder perspectives and open questions

  Structured interviews that test the desk research, surface where experts disagree, and record the questions the field itself considers unresolved.

• How we separate evidence from interpretation

  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.

• Blockers, accelerators and strategic implications

  What carries and what blocks per stakeholder group, and the moves we recommend first for positioning, evidence generation and sequencing.

• Traceable, living evidence

  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 · updates twice per year, or sooner when important developments affect your programme, agreed as part of scope · starts from a 45-minute scoping call

• A structured view of the disease biology and evidence base, including where the evidence is thin, contested or missing.
• Diagnosis, referral and treatment pathways per priority market, with the points where patients are delayed or lost.
• A curated register of relevant specialists, centres and patient organisations, with the reason each is relevant to your question.
• Documented stakeholder perspectives, open questions and the implications for medical strategy and evidence planning.

• Attribute-level testing

  How each TPP attribute is perceived across clinical, payer and patient stakeholders.

• Stakeholder perception of the profile

  How clinicians, payers and patients hear the overall profile in their own framing, including the doubts and reframings a scored questionnaire tends to miss.

• Trade-offs

  Which compromises stakeholders say they would accept, which they would resist, and where they disagree with each other.

• Differentiation

  How your profile compares to the alternatives in stakeholders' own framing.

• Profile refinement

  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

• An attribute-by-attribute read of how each element of the profile is understood by the stakeholders we speak to.
• A documented map of the trade-offs stakeholders raise, including where they disagree with each other.
• The reframings, doubts and open questions that rarely surface in internal review, recorded in stakeholders' own words.
• Clear implications for refining the profile and prioritising evidence, with the uncertainty stated.

• Diagnosis and referral barriers

  Where patients are missed, delayed or referred elsewhere, and what stands in the way of earlier identification.

• Specialist and treatment-centre dynamics

  Which centres and specialists carry the pathway, how they work together, and what governs their treatment choices.

• Stakeholder perspectives on evidence and adoption

  What clinicians, payers and patient representatives say they need to see, and where their expectations differ from each other.

• Country-specific differences

  How pathways, evidence expectations and local conditions vary across the markets in scope.

• Prioritised findings and implications

  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

• A market-by-market view of the diagnosis and referral barriers we identified, and the evidence behind each.
• A read on specialist and treatment-centre dynamics in the markets in scope.
• Documented stakeholder perspectives on evidence and adoption, including where they conflict.
• Prioritised findings, stated uncertainty and the questions your teams should address next.