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Medical Affairs Strategy for the Launch of Innovative Treatments Targeting Rare Disease
This publication represents the consensus opinion of various members of MAPS but does not represent endorsement by the authors’ organizations.
Introduction
A rare disease is typically defined as any condition that affects fewer than 200,000 people in the U.S. and 1 However, with more than 7,000 rare diseases, the total rare disease Patient population reaches 400 million people worldwide, about half of which are children.1,2 The exact number of patients with a rare disease is challenging to calculate (and is most likely underestimated) due to the difficulty of diagnosing, tracking, and defining a rare disease. Often, rare diseases are genetic and many are chronic, progressive and life-threatening. Additionally, there is often a long diagnostic odyssey and many gaps in knowledge related to the patient journey and path to diagnosis.3 Furthermore, there are few treatments available, typically no standard of care and limited guidelines (if any) to shape the treatment and care of patients with rare diseases.3 In fact, only 5% of the roughly 7,000 currently recognized rare diseases have an FDA-approved therapy, leaving thousands of conditions without a treatment.4
While rare diseases are diverse, more than 80 percent of these conditions have a known genetic cause4 and 4,000 are monogenic or caused by a mutation in a single gene,5 making rare diseases attractive targets for cell and gene therapies. In fact, there are 2,024 gene therapies in development around the world with approximately 50 percent of this research focusing on rare diseases.6
Due to the Orphan Drug Act and other incentives to focus on rare disease drug development, a shift has occurred with about 30% of the medicines in the worldwide drug development pipeline now focused on rare diseases.7 While most orphan drug development was supported by small biotech companies in the past, by 2018, larger pharma had developed or acquired about half the new drugs approved by the US FDA for orphan indications.8 This increased attention on drug development for rare diseases along with the diversity of organizations shepherding this development means that Medical Affairs (MA) organizations of all sizes need to adopt a different mindset and tailor their strategic acumen and launch capabilities to supporting therapies targeting rare diseases, many of which will be innovative cell and gene therapies.
This article seeks to outline the different aspects of MA strategy and launch excellence specific to supporting the development and launch of treatments targeting rare diseases and to provide a roadmap for MA teams and organizations undertaking this planning. While each rare disease is different and will require a tailored approach, this roadmap provides broad considerations for MA organizations.
While rare diseases are diverse, more than 80 percent of these conditions have a known genetic cause4 and 4,000 are monogenic or caused by a mutation in a single gene,5 making rare diseases attractive targets for cell and gene therapies. In fact, there are 2,024 gene therapies in development around the world with approximately 50 percent of this research focusing on rare diseases.6
Due to the Orphan Drug Act and other incentives to focus on rare disease drug development, a shift has occurred with about 30% of the medicines in the worldwide drug development pipeline now focused on rare diseases.7 While most orphan drug development was supported by small biotech companies in the past, by 2018, larger pharma had developed or acquired about half the new drugs approved by the US FDA for orphan indications.8 This increased attention on drug development for rare diseases along with the diversity of organizations shepherding this development means that Medical Affairs (MA) organizations of all sizes need to adopt a different mindset and tailor their strategic acumen and launch capabilities to supporting therapies targeting rare diseases, many of which will be innovative cell and gene therapies.
This article seeks to outline the different aspects of MA strategy and launch excellence specific to supporting the development and launch of treatments targeting rare diseases and to provide a roadmap for MA teams and organizations undertaking this planning. While each rare disease is different and will require a tailored approach, this roadmap provides broad considerations for MA organizations.
The Challenges of Medical Affairs in Rare Disease
The challenges of MA in rare disease often include frequent strategic reprioritization of limited resources due to rapidly changing and shorter timelines related to uncertain progression of clinical drug development and regulatory authority designations (e.g., Fast Track, Regenerative Medicine Advanced Therapy). Due to a smaller overall patient/customer population, many MA teams are asked to develop and execute the launch plan with fewer people and financial resources than teams working in more common disease areas. Lack of resources and accelerated timelines mean that often MA professionals in this space wear many hats, accomplishing a range of activities that would be owned by separate functions in larger organizations while also being nimble to adapt to timeline changes. With cell and gene therapies, MA personnel often need to strategize for both the rare disease therapeutic areas and the novel therapeutic modality, which adds a layer of complexity to planning and execution and often requires internal advocacy to secure buy-in for early landscape preparation. There is the added challenge of working with little precedence due to the small number of cell and gene therapies approved by regulatory authorities.9,10 In assessing the disease landscape and patient journey as part of strategy development, MA teams in rare disease may discover more gaps than answers, requiring creative information gathering and augmented evidence generation (e.g., registries, safety surveillance databases, claims databases and regular clinician and patient insights).
Given the limited number of patients with rare diseases, the healthcare professionals (HCPs) that treat these patients are also few. The complexity of recognizing symptoms of these diseases and the multidisciplinary care needed often results in HCPs of varied specialties being dispersed across different points of the patient journey. As different healthcare specialties may be involved in diagnosing the disease, treating the disease, and administering the therapy, the approach needs to be tailored to specific needs of different healthcare specialties and their specific roles across the patient journey. This makes thought leader mapping, scientific exchange and engagements, as well as engaging medical education programs more challenging. There may also be limited patient advocacy organizations or fragmented patient communities, which makes it very difficult for MA and their internal advocacy partners to secure the relevant patient insights to inform the strategy and launch planning.
Overall, the multiple challenges facing MA teams in supporting rare diseases often require more communication and collaborative solutions, both from the cross-functional teams internally and with the scientific/clinical/patient communities externally.
Given the limited number of patients with rare diseases, the healthcare professionals (HCPs) that treat these patients are also few. The complexity of recognizing symptoms of these diseases and the multidisciplinary care needed often results in HCPs of varied specialties being dispersed across different points of the patient journey. As different healthcare specialties may be involved in diagnosing the disease, treating the disease, and administering the therapy, the approach needs to be tailored to specific needs of different healthcare specialties and their specific roles across the patient journey. This makes thought leader mapping, scientific exchange and engagements, as well as engaging medical education programs more challenging. There may also be limited patient advocacy organizations or fragmented patient communities, which makes it very difficult for MA and their internal advocacy partners to secure the relevant patient insights to inform the strategy and launch planning.
Overall, the multiple challenges facing MA teams in supporting rare diseases often require more communication and collaborative solutions, both from the cross-functional teams internally and with the scientific/clinical/patient communities externally.
Key challenges in MA supporting rare diseases
- Fewer people and financial resources
- Faster clinical & regulatory timelines leading to unpredictability in launch planning • Need to be nimble, take on many responsibilities
- Expertise needed on both the rare disease and often a novel treatment modality • Fewer scientific resources/literature and expert knowledge
- Insights often come from more qualitative research and are not readily available
- Fewer key therapy area/opinion leaders
- Education needs to be tailored to diverse specialties and audiences
The Potential for Medical Affairs in Rare Disease
It is specifically in the challenging landscape of rare disease — difficult diagnosis, limited literature, and a dearth of treatments — where MA professionals and teams have the opportunity to make tremendous impact. Key to this impact is, 1) developing a clear strategy to ensure prioritization of the limited resources, 2) partnering with clinical development on trial design, incorporation of the patient voice, and trial recruitment, and 3) building sustainable partnerships with the rare disease community through trust, mutual respect, transparency, and regular communication. A core strength of MA is engagement and relationship building with a broad range of external stakeholders, including patients and advocacy groups, which is essential in the rare disease ecosystem. Another strength of MA is the ability to gain insights and turn insights into actionable activity that could be mutually beneficial to their organization as well as to the patient community. External stakeholder insights are essential for filling critical information gaps and are an important way to add value to cross-functional teams. Early engagement with Centers of Excellence is also valuable for identification of potential study sites and is often an important part of MA roles prelaunch. Since patients and families dealing with a rare disease often feel that their voice is unheard, MA teams can contribute their scientific communication expertise to help amplify the patient voice and fill the communication gaps by adopting a patient-centric approach in developing strategy and tactics such as clinical trial design or disease landscape assessment. Due to the high need, high impact opportunity for rare diseases currently without treatments, launching a potential treatment especially with an innovative, perhaps life-changing therapy not only provides a tremendous amount of benefit for patients and their communities, but can provide a fulfilling experience for MA professionals.
Best Practices for Launch Excellence in Rare Disease
Launching a product in rare disease requires a MA organization with a pioneering, committed mindset and the individual/team disposition to work beyond narrowly defined roles. Thus, adjustments to standard launch planning and practices are required to capture the unique nuances of launching a treatment for a rare disease and/or one that involves an innovative therapy. An example template as a starting point to understand the activities of MA in the period leading to product launch is the MAPS Best Practices for Launch Excellence Standards & Guidance.11
The following sections and Figure 1 provide an overview of these nuances and adjustments. Readers should recognize that each rare disease is unique, so further adaptation may be required beyond the adjustments suggested.
The following sections and Figure 1 provide an overview of these nuances and adjustments. Readers should recognize that each rare disease is unique, so further adaptation may be required beyond the adjustments suggested.
Figure 1. Medical Affairs Key Activities for Launch Excellence
Medical Strategy Development & Tactical Planning
Strategy creates purpose, efficiency, and guidance. Nowhere is this more important than when prioritizing the strategic approach and limited resources often allocated to product launch for rare disease. While conducting the situational analysis and developing the medical strategy may be daunting, especially with limited people resources, an aligned and prioritized medical strategy will be well worth the effort.
Situational Analysis
The first step in strategy development is conducting the situational analysis to ensure appropriate understanding of the therapeutic environment which will then help to identify what needs to be done to reach the desired situation. The process for conducting a situational analysis is outlined in the MAPS Medical Affairs Strategic Planning Guide14 and focuses on four external areas including disease landscape, competitor, audience, and regulatory analyses. With more common diseases, much of this situational analysis can be completed by synthesizing information from existing sources. With rare diseases, the current environment has myriad information gaps, often including the following:
Disease Landscape
The disease landscape and natural history of disease is especially scarce. In many rare diseases there is a long diagnostic odyssey and many gaps in knowledge related to the patient journey.3 Typically, there is no standard of care and limited guidelines (if any) with rare diseases because there are no or limited treatment options.3 Gene therapy is often for ultra-rare (prevalence 13) monogenic conditions so even more limited disease information may be available to conduct the analysis.
Competitor
For the competitor analysis, competitors in the traditional sense are often scant due to the limited number of approved products or only products for symptomatic treatment of a rare disease, but competition in the preclinical/clinical trial space may be much more crowded. Information on competitors may be found through resources such as scientific conferences, patient organization websites, or clinicaltrials.gov.
Audience
The audience analysis is unique for rare diseases with weighted importance given to patients/caregivers/families, patient advocacy groups and policy makers. Inclusion of the patient’s voice as part of the landscape assessment is critical, as these rare populations tend to be very well-informed and active in advocacy groups, and often present a compelling voice in front of regulators, payers, and clinicians. With cell and gene therapies, stakeholders with expertise in these modalities and routes of delivery must also be considered.
Regulatory
The regulatory and reimbursement analysis is challenging, especially when a rare disease involves an innovative therapy, as the regulatory landscape is still evolving, and no playbook is set for payer engagement due to the limited number of approved therapies. The costs of these innovative therapies are high, so demonstrating the value of the treatment is of paramount for market access and is often supported clinically/scientifically by MA.
Insights gathered by MA teams from all stakeholders including clinicians, patient advocacy organizations, patients/caregivers/families, policy makers, and payers need to be collected in a systematic way to fill these information gaps and inform the development of a clear medical and cross-functional strategy.
To complete the situational analysis, tools such as a gap analysis and medical SWOT (Strength, Weakness, Opportunities, Threats) can be utilized to consolidate the learnings from the situational analysis and inform the development of the medical strategy and tactical planning. The gaps identified often lead to strategies focused initially on information and insight gathering and then a structured and integrated clinical and scientific evidence generation plan to increase the understanding of the patient journey. The medical strategy is patient-focused with rare diseases and typically involves disease awareness pre-launch and post-launch. For example, initiatives focusing on appropriate diagnosis often start early and continue after product launch. When innovative therapies are involved, the medical strategy usually also includes early education related to the treatment modality. Figure 2 provides an example of key pre-launch strategic objectives for the launch of a gene therapy in a monogenic ultra-rare disease. Since there are often limited MA resources when launching therapies for rare disease, there is a need to prioritize and maybe even weight the strategic objectives to ensure appropriate focus.
To complete the situational analysis, tools such as a gap analysis and medical SWOT (Strength, Weakness, Opportunities, Threats) can be utilized to consolidate the learnings from the situational analysis and inform the development of the medical strategy and tactical planning. The gaps identified often lead to strategies focused initially on information and insight gathering and then a structured and integrated clinical and scientific evidence generation plan to increase the understanding of the patient journey. The medical strategy is patient-focused with rare diseases and typically involves disease awareness pre-launch and post-launch. For example, initiatives focusing on appropriate diagnosis often start early and continue after product launch. When innovative therapies are involved, the medical strategy usually also includes early education related to the treatment modality. Figure 2 provides an example of key pre-launch strategic objectives for the launch of a gene therapy in a monogenic ultra-rare disease. Since there are often limited MA resources when launching therapies for rare disease, there is a need to prioritize and maybe even weight the strategic objectives to ensure appropriate focus.
Key Takeaways/ Actions Related to Medical Strategy
- Prioritize initial limited resources through development of a clear medical strategy and tactical plan
- Focus on early insight generation to supplement gaps in knowledge
- Include a broader group of external stakeholders in engagement plans
- Start early with disease awareness and earlier diagnosis initiatives
- Educate HCP and patient communities early, especially with a new treatment modality
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