Overcoming Challenges in Rare Disease Health Research and Orphan Drug Program Commercialization

The Agenda

The Process of Understanding the Person with the Indication

This presentation gets to the heart of a patient’s decision-making process, from their physical needs to their social influences to better engage, recruit and retain patients in trials. Furthermore the insights gathered and the application of these methodologies can be applied to improving adherence through the trial as well as continued treatment compliance through the therapeutic continuum. We cover:

  • When and how to connect with key stakeholders such as Health Care Practitioners and directly with patients
  • Message planning through the treatment relationship continuum
  • Balancing messages across tactical tools such as apps, direct to patient and newsletters to improve engagement.
Patient Reported Outcomes Strategy: Endpoint Selection and Development & Mixed Methods Research in Rare Diseases

In the context of rare diseases, generation of robust evidence on patient-centered outcomes is confronted by the major issue of scarcity of available data. In this context, patient populations are small by nature and should be used wisely. This raises issues in evidence generation in general, but it is even more crucial for patient-centered research. Combined together, lack of specific questionnaires, limited validity of generic questionnaires, and insufficient power severely limit the documentation of patient and caregiver perspective in most orphan drug regulatory dossiers. Mixed Method Research (MMR) involves data collection, analysis, integration of findings and inference drawing using both qualitative and quantitative approaches in a single study. MMR can combine the standardized analysis warranted by quantitative research necessary for evidence generation and the richness of information on patient experience that can be collected though qualitative research (e.g. interviews), even in a small group of individuals.

The potential applications of MMR in phase II/III clinical trials for rare diseases include: assessing content validity of COAs, informing conceptual models of disease burden and treatment benefit, supporting endpoint selection and choice of measurement instruments, but also documenting the patient experience of a new drug before market authorization. Education and awareness are needed to facilitate adoption and implementation of MMR in clinical trials, enhance its credibility and ultimately contribute to address the challenges of patient-centred outcomes in rare diseases.

Market Access Challenges for Rare Diseases

Given the small patient populations involved but the large impact on those patients, rare diseases present unique market access challenges for the manufacturers that develop products to combat them. This session underlines the opportunities and challenges inherent in getting orphan drugs to patients. In particular, we provide evidence-based examples to provide a deeper understanding of:

  • Opportunities for early engagement with stakeholders, including clinical and economic evidence generation advice
  • The current reimbursement environment across the globe, including the US, EU, Japan, Korea and Taiwan
  • Country-specific orphan drug programs and information requirements
  • Existing challenges to reimbursement
  • Demonstrating cost-effectiveness/budget impact
  • Innovative schemes for reimbursement of orphan drugs
Recent Developments in HTA and Reimbursement Decision-Making Considerations for Orphan Drugs in Europe

Orphan drugs often represent a problem for reimbursement decision-making, as they rarely meet the criteria of cost-effectiveness and evidence quality. The lack of an HTA process suitable to respond to the specificities of orphan drugs can result in restricted or delayed access to patients. Many national pricing and reimbursement systems have been criticised for not adapting their processes to address the specific challenges associated with orphan drugs. However, in recent years there has been a focus on a more fit-for-purpose approach involving amendments to existing processes and/or the creation of alternative processes in several European countries. This presentation provides an overview of some of the special considerations made in the HTA and reimbursement processes for orphan drugs in Europe.

Regulatory Hurdles Orphan Drug - Are They Increasing?

Developing effective treatments to combat rare diseases demand heavy resources. The combination of governmental incentives to develop compounds for these diseases, combined with public support to find cures make R&D for Rare Diseases-Orphan Drug one of the fastest growing segments in the biopharmaceutical industry. This talk discusses the regulatory hurdles faced by companies pursuing this area of R&D and whether they have increased or shifted making designation or approval more difficult.

Orphan Drug and Rare Diseases - Requirements for Real World Data: Generating Data to Gain and Keep Market Access

Throughout the clinical development and commercialization lifecycle of orphan products to treat rare diseases, there are a variety of clinical studies that may be conducted. Studies may be conducted for various reasons including product regulatory approval, patient access to a product for an unmet need, obtaining real world data with patient registries, or as a post-marketing requirement following product approval. The type of study to be conducted is often dictated by clinical, regulatory, or commercial needs.

This presentation addresses the various clinical, regulatory, and commercialization strategies that may be implemented in the pre-, peri-, and post-approval development of products to treat rare diseases and orphan indications.

Presentation topics include:

  • Patient Registries for Rare Diseases
  • Sponsorship, Benefits & Applications
  • Pre- & Peri-approval Studies for Orphan Drug Development
  • Bridging Studies between Clinical Development & Product Commercialization
  • Naturalistic Registries
  • Expanded Access Programs
  • Post-approval Registries for Orphan Drugs
  • Rare Disease/Orphan Drug Registries: Operational Challenges & Solutions

Key Learning Objectives:

  • What are the benefits of conducting clinical studies and registries for rare diseases?
  • What are the types of studies conducted during different phases of orphan drug development?
  • How are patient registries used to generate real-world data for rare diseases and orphan drugs?
  • How is expanded access used to provide treatment for patients with rare diseases?
  • What are the unique challenges of conducting rare disease/orphan drug registries?
  • How can proactive study management strategies successfully address these challenges?
Case Study: How to Capture the Patients and Caregivers Perspectives in Rare Diseases? A Challenge for Orphan Drug Developers

The cumulated burden of the many rare diseases on the society is such that numerous countries have developed specific policies to support research and encourage the emergence of innovative therapeutics. However, to support their decisions, regulators, payors and prescribers frequently miss adequate assessments measuring the perspective of the patients and their caregivers. Such assessments are critical to capture, communicate and compare the burden of each specific disease, as well as the outcomes of treatments.

In this session, we present two routes to address this need: the development of specific measures, and the conduct of Mixed-Methods Research. We begin with a history of how the PKU-QoL was internationally developed, validated and used to assess the impact of Phenylketonuria on patient’s and caregivers daily lives. This example will show how challenges such as cross-cultural variations, working across different age groups, and optimizing research in small samples, can be addressed. Every step has been published in congresses and peer-reviewed journals, supporting the use of PKU-QoL to validly assess the burden of diseases, as well as the outcomes of treatments. With the e-version of PKU-QoL made available for clinical practice, all stakeholders now share a common metric, and this metric is patient-centered. As frequently in rare diseases, the success results from three key features: first, the collaborative work of an international group of leaders and an experienced team of questionnaire specialists, second, the engagement of patients and their clinicians, and third, the strategic effort of a sponsor.

Next, we provide and explanation of why the traditional approach to Patient-Centered Outcomes research is not always the ideal route in orphan drug development, and will identify emerging solutions. We first discuss the paradox of rare diseases, where patient burden is the alpha and the omega of all stakeholders concerns whereas Patient-Reported Outcomes are rarely used to support regulatory claims, payors decisions, or drug prescription. We then show how innovative approaches such as Mixed Methods research, can improve the knowledge, save time and costs. Then we give an overview of several current initiatives aiming at providing adapted guidance to the conduct of Patient-Centered Outcomes Research in the context of Orphan Drug Development.

As a conclusion, we give a flavor of what tomorrow could look like for assessing the patient benefit in rare diseases: a secured, efficient combination of traditional approaches and innovative solutions.

This Patient-Centered Research Workshop has been presented numerous times at events around the world. Mapi and industry experts, including Kelly Franchetti, Ron Christensen, and Patricia Anderson shared their experience and expertise with attendeees from across the industry.

World Orphan Drug Congress USA 2015, Washington DC

World Oprhan Drug Congress EU 2015, Geneva

We would love to present this workshop for your team or at your tradeshow. To find out more, contact Mapi at webinquiry@mapigroup.com

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Mapi is the market leader in all the disciplines needed to commercialize Orphan Drugs and manage Rare Disease programs

Real-World Evidence: Industry leaders in real world research to support regulatory requirements, commercialization evidence, and engage treatment populations
Patient Insights: Services to increase recruitment and retention, and ensure the patient’s voice is heard throughout the lifecycle of drug discovery, from protocol development to post marketing
Direct-To-Patient: A dedicated global team and call center enabling patient enrollment, retention, and support throughout the study
Patient-Reported Outcomes: World-renowned leadership with access to over 4,000 PRO measures and expertise in custom scale development
Language Services: Recognized leaders in PRO validation, patient support, and HCP materials
Strategic Regulatory Services: Offering consultation and experienced procurators for regulatory meetings
Pharmacovigilance & Risk Management: Experts in international pharmacovigilance and safety, with strategically placed Qualified PV contacts
Real World Strategy & Analytics: Global Health Economics team with expertise in Rare Disease research, including Meta Analysis, Cost Consequent Analysis, and Market Access to support payers and health technology assessments
Patient Advocacy: Deep relationships with both patient advocacy and patient community groups