HEOR · Burden Studies · HTA-Ready
Building the Evidence Base for Payer and Regulatory Success
Orphan drug designation gets your therapy to market. Health economics and outcomes research determines whether it gets reimbursed, at what price, and in which markets. For rare and ultra-rare conditions, the evidentiary challenges are compounded: small patient populations, heterogeneous disease expression, absent or immature natural history data, and payer bodies accustomed to evidence standards that rare disease simply cannot meet.
MedPanel’s rare disease HEOR research services are designed for this environment — producing burden-of-disease evidence, payer insight, and patient-reported outcomes data that is defensible in HTA submissions and market access negotiations globally.
Burden-of-disease evidence
Direct, indirect, and quality-of-life costs — built for cost-utility models.
Patient-reported outcomes
Concept elicitation through psychometric validation in rare populations.
Payer & HTA insight
Evidence structured for NICE, IQWIG, HAS, and ICER submissions.
What HEOR Means in a Rare Disease Context
Health economics and outcomes research encompasses a broad set of methodologies — burden-of-disease studies, cost-effectiveness models, comparative effectiveness research, payer preference research, and patient-reported outcome development and validation, among others.
HEOR in common disease
Evidence drawn from large claims datasets and electronic health records.
Well-validated generic instruments are usually sufficient.
Sample sizes rarely constrain the analysis.
Standards are readily met with abundant data.
HEOR in rare disease
Most secondary resources do not exist or are too thin to analyse.
Condition-specific measurement is frequently mandatory.
Credible evidence must come from small, hard-to-reach populations.
Outputs must satisfy NICE, HAS, IQWIG, and ICER.
In common disease, HEOR often draws on large claims datasets, electronic health records, and well-validated generic instruments. In rare disease, most of those resources either do not exist or are too thin to support meaningful analysis. That gap creates both a challenge and an obligation. For rare disease HEOR, the challenge is generating credible quantitative evidence from small, hard-to-reach populations. The obligation is doing so in a form that health technology assessment bodies — NICE in the UK, the HAS in France, IQWIG in Germany, ICER in the United States — will accept as the basis for coverage and pricing decisions.
MedPanel’s rare disease HEOR research capability addresses both sides. We design primary research studies that generate the evidence your dossier needs, recruit verified specialist and patient respondents who represent real-world clinical experience, and produce outputs structured for submission into HTA processes, payer evidence packages, and internal value framework development.
Disease Burden Quantification in Rare Conditions
Payers and HTA bodies want to understand what a rare disease costs — to the healthcare system, to patients, and to society — before evaluating what a treatment is worth. Quantifying that burden in rare disease requires primary research, because published literature is sparse, claims data undercounts misdiagnosed or undiagnosed patients, and the indirect cost burden is rarely captured in administrative records at all.
Direct medical costs
Indirect costs
Health-related quality of life
MedPanel designs and fields burden-of-disease studies that capture the full cost landscape across these three domains. For rare conditions with high diagnostic odyssey burdens, we build cost-of-delay analyses that quantify what is spent in the years before correct diagnosis. Indirect costs — lost productivity, early workforce exit, presenteeism, and informal caregiving time — are often larger than direct medical costs in rare disease and are consistently underweighted in standard economic models.
Our rare disease burden studies are designed from the outset to produce inputs compatible with cost-utility and cost-effectiveness models, reducing the analytical gap between primary data collection and value dossier development.
PRO Instrument Development and Validation for Rare Conditions
Patient-reported outcome instruments are increasingly central to rare disease regulatory and reimbursement strategy. The FDA’s PRO Guidance and EMA’s reflection paper on PRO endpoints both recognize that where survival endpoints are difficult to achieve, patient-reported evidence of meaningful clinical benefit can support labeling claims — and increasingly, HTA decisions.
The problem for rare disease is that validated, condition-specific PRO instruments often do not exist. Generic instruments miss the specific symptom and functional impact domains that matter most in a given condition. And developing a new instrument to full psychometric validation standards requires primary qualitative and quantitative research with patients and clinicians — research that is difficult to conduct well in populations where even finding eligible participants is a significant undertaking.
MedPanel supports PRO instrument development programs at every stage: concept elicitation interviews with patients and caregivers to identify the symptom and impact domains that matter most; cognitive debriefing studies to test draft item comprehension and relevance; and quantitative field studies to support content validity and initial psychometric assessment. Our patient recruitment infrastructure reaches verified rare disease patients across geographies and disease stages, enabling the diverse sampling that FDA and EMA concept elicitation standards require.
We work alongside your clinical team and external CRO partners or independently, depending on the structure of your program.
Concept elicitation interviews
With patients and caregivers, to identify the domains that matter most.
Cognitive debriefing studies
Testing draft item comprehension and relevance.
Quantitative field studies
Supporting content validity and initial psychometric assessment.
Diverse geographic sampling
Across disease stages, as FDA and EMA standards require.
Verified patient recruitment
Reaching eligible respondents in hard-to-find populations, with flexible team integration.
Orphan Drug HEOR Requirements and Payer Negotiations
Orphan drug designation reduces the regulatory barrier to approval. It does not reduce the payer barrier to reimbursement. Anticipating HTA requirements before late-stage development — rather than scrambling to generate evidence after approval — is the single most effective way to shorten the time from approval to reimbursement.
In the UK, NICE’s Highly Specialised Technologies (HST) evaluation pathway applies to many ultra-rare conditions and requires a full economic submission — often under conditions of significant clinical uncertainty that must be addressed through scenario analysis and sensitivity testing. In Germany, IQWIG applies full benefit assessment even to orphan drugs above a defined revenue threshold. In the United States, ICER reviews are increasingly influencing payer negotiations for high-cost rare disease therapies, regardless of their advisory-only status.
MedPanel conducts payer research studies that surface the specific evidence gaps your access strategy will need to address: payer decision-maker surveys, HTA body landscape analyses, and formulary committee insight studies that map what decision-makers in your priority markets are likely to require. Our rare disease survey research capabilities support the quantitative payer research component, and our rare disease market research hub provides broader context on how HEOR fits within a full rare disease evidence strategy.
Strategic HTA body landscape analyses
Qual Formulary committee insight
HST pathway
Full economic submission, often under significant clinical uncertainty.
Benefit assessment
Applies to orphan drugs above a defined revenue threshold.
Transparency Committee
Clinical-benefit appraisal driving pricing and reimbursement.
Advisory reviews
Increasingly shaping high-cost payer negotiations.
Commission a study
Commission a Rare Disease HEOR or Burden Study
Rare disease HEOR research is most valuable when it is designed early, executed with methodological rigor, and structured to serve multiple downstream uses — regulatory submissions, HTA dossiers, payer negotiations, and internal value framework development simultaneously. MedPanel’s rare disease HEOR team includes research designers with direct experience in orphan drug evidence programs.
Review of your existing evidence base
Identification of access-critical evidence gaps
Proposed study design and indicative scope
Response within five business days
We review your existing data, identify the gaps your access strategy cannot afford to leave open, and propose a primary research program that addresses them within your development timeline. To submit a project brief directly, email info@medpanel.com with your therapeutic area, target markets, and the HTA or payer submission timeline you are working toward. We will respond with a proposed study design and indicative scope within five business days.