Patient-Centric Real-World Evidence


increasingly impacts the entire biopharmaceutical value chain, accelerating drug discovery and development, supporting regulatory approvals, providing new ways to demonstrate value for market access, and creating innovative business models by using patient outcomes to enable value-based contracts

Patient centric real-world evidence (RWE) is an increasingly crucial component of benefit/risk and value demonstration, particularly for innovative and potentially transformative orphan and advanced therapy medicinal products and in rare diseases, where the collection of data via traditional routes is difficult. Technological advances permit the collection of rich and continuous real-world data (RWD) from an increasing number of sources and platforms (e.g. wearables, sensors, apps, hybrid sources combining electronic health records and genomics), while next generation analytics enable the translation of these data into actionable RWE.


Strategically planning and implementing the generation of real-world patient centred evidence requires specialised expertise and experience. Observational studies - retrospective and prospective - must provide a design, outcomes, endpoint(s), data quality, transparency and methodological rigour that are adequate and actionable for regulatory and HTA decision-making in order to be relevant for both benefit/risk and value demonstration.


We propose pre-planning real-world and patient-centered research as an integral component of an early access strategy and evidence generation plan in a life-cycle approach (from very early in development to post-authorization). A central component of this planning process is to consider seeking joint scientific and HTA advice and potentially utilizing the various incentives and adaptive pathways emphasizing real-world evidence, which are open to transformative medicines, particularly those eligible for orphan designation in rare diseases.


We support our clients in the strategic evidence generation planning and design of real-world and patient-centric research from very early in development and throughout the life-cycle, including: natural history studies, historical or concurrent clinical trial controls, rare patient and disease registries, pragmatic studies, expanded access & compassionate use programs, retrospective research (electronic medical records, charts, claims), scientific surveys, Patient Relevant Outcomes Measures (PROMs), and the elicitation of patient and carer preferences and unmet medical need.

Services and Capabilities


Real-World Patient-Centric Research Strategy

  • Creating strategies, concepts and proposals for real-world evidence (RWE) and patient-relevant outcomes research activities as an integral component of a client's evidence generation plan with the following objectives
    • natural history studies and registries, crucial in ultra-rare conditions
    • supporting prospective early access strategies (e.g. EMAs PRIME, FDAs Breakthrough Therapy)
    • assisting the demonstration of significant benefit for orphan designation and orphan exclusivity at marketing authorisation
    • generating evidence for (early) benefit/risk and value appraisals  and RWE insights to the value story
    • providing endpoints and results that are actionable for (early) decision-making from a regulatory and HTA perspective
    • including endpoints and measures that are relevant from the patient and carer perspective (PROMs)
    • supporting patient-centered and evidence-driven RCT design to accelerate clinical development, for example with historical and/or concurrent controls data
    • supplementing RCTs in fragmented and smaller rare disease populations, e.g. adaptive clinical trial designs in small populations
    • validation and qualification of biomarkers and surrogate endpoints as novel clinical development tools with EMA and FDA
    • enabling the identification, screening and recruitment of those patients with the greatest unmet need, leading to smaller and better defined patient and study populations, for example orphan subsets
    • increasing the efficiency and due diligence of post-authorization commitments, including confirmatory RCTs, pragmatic studies, post-authorisation safety and effectiveness studies (PASS, PAES), REMS
    • life-cycle management and maximising product value to LOE with expanding populations and indications

Real-World Study Design

  • Experience in designing real-world patient-centered studies and the ability to successfully address unique challenges involving
    • prospective data collection (registries, observational and pragmatic studies, expanded access and compassionate use programs, scientific surveys, PRO/ePROs, real-time data from wearables & monitoring devices) 
    • retrospective data analysis (electronic health records, chart reviews, claims data)
    • health databases, "big data" research and analytics
    • observational analytical methods (regression models, propensity scoring, matching approches, machine learning approaches, handling of missing data, validation methods, etc.)
    • current and evolving guidelines, recommendations, and best practices for real-world research, particularly in the key European markets, UK, Germany, France, Italy, and Spain
  • Understanding how and why real-world pragmatic trials and observational studies are different from clinical trials and how to use specific design and methodology to achieve a sponsor’s objectives and address the compound- and indication-specific requirements of regulatory and HTA applications.
  • Providing insights regarding the strengths and weaknesses of the various novel RWD platforms and next generation analytical tools in order to assist clients in the selection of the ideal "big data" sources and methodology and to ask the right questions in support of their objectives.


  • Comprehensive coverage of outcomes, including efficacy, effectiveness, safety, health related quality of life, patient-relevant outcome measures, patient satisfaction, unmet medical needs, economic outcomes

Patient Preferences, Unmet Medical Needs, Relevant Outcomes

  • Experience to select, design and validate instruments to measure patient-relevant outcomes (PROMs)
  • Methods to elicit and measure patient preferences, unmet needs, and patient focussed benefit-risk analysis, including Conjoint analysis (CA), Discrete Choice Experiments (DCE), Time-Trade Off (TTO), Multi-criteria Decision Analysis (MCDA)

Statistics and Data Analyses

  • Understanding the complexity and limitations of data from observational studies and of the analytical and statistical methods that may be applied to such data
  • Maximising the toolbox: meta-synthesis of data from all available sources (RCTs, RWE, literature and grey matter) relevant to benefit/risk and value demonstration for regulatory and HTA decision-making
  • Experience in producing innovative data analyses and reports that meet the highest standards of professional peer review

Communication and Scientific Publication

  • Proven record in preparing presentations, executive summaries, white papers, reports, and electronic and traditional peer-reviewed publications, targeted at a wide range of audiences internal and external to sponsors

Research and Expert Network

  • Scientific research network of investigators and research sites with experience in observational and patient-centered research, and leading experts in rare diseases (endocrinology, neurology, neurosurgery, haematology and oncology) 
  • Longstanding established network of professionals across Europe and strategic collaborations in HTA, market access, outcomes research, HRQoL/PRO, statistics and biometrics, clinical operations, and market research

Responsiveness and Effectiveness

  • Integrated, specifically tailored and highly responsive approach, cost-effective and professionally coordinated from start to finish

Project Management

  • Professional project management of complex, time and budget sensitive programs

Therapeutic and Marketplace Experience


ORPHA Strategy Consulting has experience in a wide range of therapeutic areas, specialized in rare diseases and orphan indications with small, fragmented patient populations and challenging recruitment. Our marketplace experience spans all of Europe, with scientific expert contacts in leading research sites and rare disease centers of reference in the major countries. 


In rare diseases, our experience includes: 

 acute myelogenous leukaemia (AML), multiple myeloma (MM), neuroendocrine tumours, pulmonary arterial hypertension (PAH), Niemann Pick disease, acromegaly, graft versus host disease (GvHD), primary sclerosing cholangitis (PSC), Mucopolysaccharidosis (MPS), Myasthenia Gravis (MG), Graves Orbitopathy (GO), Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Antibody-Mediated Organ Rejection (AMR), Narcolepsy, and Friedrich’s ataxia. We are currently working in rare autoantibody-mediated diseases, ophthalmology  oncology/haematology, metabolic, CNS and GI indications.