By Eric Cale, VP of strategy services at SCOUT


The statistics are staggering and well-known. Despite an increasing pipeline of drugs targeting rare diseases, 95 percent of the 7,000 disorders classified as rare still have no indicated treatment option. Eighty percent of rare diseases are genetically based, and more than half of the 30 million Americans affected by rare disorders are children. Rare diseases can take five to seven years to be accurately diagnosed, partly because they are inherently difficult to identify and because there are relatively few physicians equipped to recognize and design an appropriate treatment plan for a disorder that will, at most, affect 200,000 people (but often far fewer).

Drug development won’t eliminate every barrier rare disease patients face getting from a symptomatic state to a correct diagnosis to appropriate treatment. But a skillfully handled drug launch can provide the potential therapeutic answer for those affected by rare diseases and create relationships that foster an increased understanding of the difficulties faced by all stakeholders. The goal of a successful launch is to reach as many patients in need of therapy as possible in order to improve their lives. Marketing plays an increasingly important partnership role when launching a new rare disease therapy and requires that companies implement multiple approaches across multiple audiences. Outreach starts many months or years before launch, and it begins with the physician.

Improve disease recognition and diagnosis ability

Delays in diagnosis plague the rare disease landscape. The fact that, on average, a rare disease patient will go to seven doctors before reaching a diagnosis underscores the difficulty HCPs face in recognizing rare disorders. Many may never encounter a rare disease during the entirety of their medical careers.

It’s unrealistic to expect overburdened physicians to be familiar with thousands of rare conditions, but the pharma marketing team can help establish awareness of a specific rare disease, how to recognize it, and to whom to refer a patient for an accurate diagnosis.

For specialists already familiar with the rare disease, the goal is to establish awareness and understanding of gaps between the current treatment paradigm and how a new therapy could change the course of the condition.

Too often, a disease is so rare that there isn’t a current treatment option. Orphan or fast-track drug designation becomes an option in this case. Since passage of the 1983 Orphan Drug Act, more than 600 drugs have come to market with this designation. However, most rare diseases are treated using historical approaches, presenting marketers with an education challenge that requires addressing HCP’s knowledge and mindset.

Generally, HCPs go with what experience has taught them. Namely, that a novel drug treatment could be difficult to obtain at first, more expensive than established treatments, and have possible efficacy and safety trade-offs. Changing mindsets takes time and trust, so it’s necessary to pre-condition the market as much as two years pre-launch to address these concerns, building an understanding of how the new therapy works (if known), its clinical data, and its potential role in the treatment or management of a specific rare disease.

Education starts with creating cross-functional organizational expertise in the disease. This begins with understanding who the frontline (often referring) and specialty healthcare practitioners are who will drive the diagnostic and treatment process. From there, marketers must establish an outreach plan based on the HCPs’ disease knowledge and treatment behaviors. This initiative will also build disease awareness, improve recognition of disease symptoms, and underscore how patients with this particular rare disease are currently underserved.

Establish the brand value proposition before launch

Even when there are limited therapeutic treatment options for specific rare diseases, there are often few community guidelines for their use. This may encourage physicians to continue using historical approaches because there is clinical experience to draw on. Without clear communication establishing the differentiated benefit of a new therapy and how it should be used, even fast-tracked drugs can experience utilization challenges.

The goal for marketers is to build stakeholder understanding of current treatment perceptions and position how the new treatment is different or superior. Pre-market qualitative research can support that empirical insight. Then, marketers should develop a communication platform that supports how target stakeholders should perceive the product and what makes it different from any other option. Every communication needs to be target-specific while demonstrating high value in order to overcome challenges that could include potential side effects. Establishing the brand value proposition should begin 1- 2 years before launch and continue throughout the drug’s lifecycle.

Build strong community connections

Marketers must always respect the power of rare disease advocacy groups. Often led by parents of children with rare diseases, these groups can be very knowledgeable and influential. They function as educators, information gatekeepers, and fierce advocates. Often closely connected to the experts in the rare disease of their focus, many also fund seminal medical research. Gaining their help and goodwill, which can ultimately aid in identifying and activating appropriate patients for a new therapy, requires building close, trust-based relationships over an extended period of time.

Among patients and caregivers, trust can be as important as the product itself. Consequently, rare disease marketers must have a direct relationship with patients affected by a disease. These close, personal relationships are the foundation for a partnership to change lives for the better. To be effective, marketers must become part of the disease treatment ecosystem, working with patients, caregivers, advocates and HCPs to deliver value throughout the patient journey and building enduring relationships with all stakeholders.

How can this be optimally achieved?

Starting at the clinical trial phase, nourish close organizational relationships with advocacy groups and build patient/caregiver relationships from there. The more a pharma company collaborates with stakeholders and keeps them informed of the company’s activities, the better the rare disease community will understand the value and appropriate use of a new therapy and be prepared to discuss it with others.
Step up the frequency of one-on-one communication with stakeholders. When HCPs see a company invested in maintaining meaningful relationships, they view the company as part of the community. This makes them tangentially more trusting and more likely to prescribe.
Establish early on how data should be optimally collected and utilized to drive improved outcomes over both the short and long term. This includes the use of appropriate social media channels to leverage social listening opportunities and establish a path for longer-term engagement.
Identify strategies that help facilitate administration and provide valuable oversight that can start at the point of care and continue throughout the treatment course. Provide answers on how to get the product, what to expect, and how to successfully use it both initially and over time.
Continue to collect, analyze and publish data (while always maintaining HIPAA compliance). Recent FDA guidance documents help manufacturers deliver greater value, particularly to underserved disease communities. For example, the Framework for FDAs Real World Evidence Program (December 2018) and Medical Product Communication Guidance for Industry (June 2018) have created new opportunities to better reach and serve rare disease communities.
Reinforce success by connecting current patients with those who are newly diagnosed. That brings to bear the importance of building close stakeholder relationships and working with pharma marketing agencies skilled at finding and activating patients with rare diseases and other highly specialized conditions. This might include using search engine-enabled predictive algorithms to accelerate diagnosis, leveraging cognitive analytics/NLP platforms to mine huge amounts of unstructured data, and establishing online influencer networks with existing reach into patient communities.

There are many considerations unique to every product launch. As rare disease marketers, the ability to immerse ourselves into the patient journey and understand its unique characteristics is critical to driving launch success and, more importantly, to delivering life-changing treatments to patients.