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Tapping the potential of rare diseases: A journey into uncharted territory

Delivering effective treatment for rare diseases remains a major unmet medical need. Fortunately, scientific advances are rapidly enhancing our ability to identify, diagnose and ultimately treat these conditions. Coupled with increasing government recognition of the challenges they present, rare diseases have become financially viable targets for the pharmaceutical industry.

Interventions for rare diseases have the potential to generate healthy returns on investment, and policy changes to encourage the development of such products are helping to drive the market forward. Depending on the country, a drug that is given an orphan designation may entitle the developers to waived fees; reduced/shortened regulatory requirements and timelines; tax breaks for trials; and enhanced intellectual property protection.

Although the rare disease market presents attractive opportunities in certain respects, it remains fraught with challenges, and successfully navigating the space requires a shift in mindset away from that employed in more ‘mainstream’ therapy areas. Low levels of clinical awareness and expertise, small patient populations, paucity of data, and access to treatment are all factors that drive the need for new approaches, compared with those used in more traditional therapy areas.

Disease awareness

Given their nature, the index of suspicion for a given rare disease is often very low. Therefore, it is essential that clinicians and other healthcare professionals (HCPs) with ‘gatekeeper’ roles for patients are identified early to facilitate engagement and education, and ultimately, improve and hasten diagnosis rates. Clear mapping of the patient journey is pivotal to ensure initiatives reach the right groups of HCPs. In addition, the number of experts in any rare disease is typically limited. Therefore, relationships between pharma companies and these thought leaders often become much more personal than those in more common therapy areas, necessitating an increased focus on establishing and nurturing mutually productive relationships.

Patient population size

The small, geographically diverse patient populations that characterise many rare diseases coupled with the challenges of timely diagnosis can make finding patients difficult. This has repercussions for both clinical trial recruitment and the subsequent success of a product.

Likewise, designing trials that are statistically robust enough to produce meaningful results when there is only a small number of patients can be challenging. Identifying patients obviously helps to address this, but it is also important that companies identify and measure the endpoints that demonstrate the true value of a product. Failure to do this early in the process can lead to difficulties in gaining funding for treatment later.

Data paucity

On top of any patient-related issues, the lack of natural history data in some rare diseases poses several key challenges in the development of new therapies; for example, in identifying a meaningful comparator for a novel intervention. Additionally, for many rare diseases, well-characterised efficacy endpoints are not available, so new or surrogate endpoints may need to be developed. Putting the patient front and centre of the development of these novel endpoints is key for the success of rare disease drugs.

Access to treatment

The demonstration of value is key to the successful adoption of treatments for rare diseases. Costs per treatment can often be high, and this must be effectively justified to payors through the appropriate HTA or equivalent route. Unfortunately, such schemes are often designed to assess treatments for common, rather than rare, diseases. Therefore, it is essential that companies engage with all relevant stakeholders early to identify, collect and provide the evidence of value that is required for market authorisation and funding approval.

The need for a hybrid approach: The insight-driven med comms agency

Therefore, to meet the various unique challenges of the rare disease market, medical communications agencies must provide an evolved skill set to assist clients, who often have small teams with limited resources. To maximise value, it is important that agencies provide a seamless, comprehensive offering and identify and address the key barriers and challenges.

The integration of insights practice into the wider medical communications offering can be particularly powerful. The combination of low disease awareness, low patient numbers and data paucity means that patient–HCP–treatment dynamics are not well understood; however, a well-targeted and well-executed insights programme can underpin and complement the development and execution of a medical strategy. Such activities might include mapping the patient journey, identifying the most relevant endpoints and efficacy measures, and assessing the changes achieved by tactical programmes through establishing clear, measurable outcomes.

Insight-driven programmes ensure a tight alignment between the needs of patients, the marketplace, and the activities undertaken to address these needs.

For information on our expertise in rare diseases or our powerful, insight-driven scientific and medical communications, please visit www.porterhousemedical.com/solutions.

Author: Ian Keary

Title: Strategy Director

23rd October 2019

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Porterhouse Medical Group

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