At Blue Matter, we’ve decided that helping companies succeed in rare diseases is critically important.  Companies that are working to help patients who often have nowhere to turn deserve all the help they can get.  That’s why we’ve built specialized capabilities in rare diseases.  You won’t find a partner who understands your situation better.

In the European Union, a disease is defined as rare when it affects fewer than five in 10,000 people.  In the United States, the definition is similar:  fewer than seven in 10,000 people.

That rarity places a higher burden on patients and their families.  For decision makers in pharmaceutical companies focused on rare diseases (RDs), it also presents a distinct set of challenges.  These challenges include:

  • Identifying patients
  • Demonstrating value and securing market access
  • Building partnerships with rare disease communities
  • Establishing rare disease centers of excellence
  • Defining the proper rare disease business model
  • Building the optimal rare disease organization
  • Effectively launching a rare disease asset with limited resources

At Blue Matter, we use our specialized rare disease knowledge to help clients to overcome those challenges and succeed in these market spaces.  Our experience in rare diseases includes numerous areas, including:

  • Rare genetic diseases
    • Neurodegenerative disorders
    • Metabolic genetic diseases
  • Rare oncology indications

Rare Disease-Related Services

Develop A High Value RD Therapy

To develop a novel high-value therapy, we believe that the Target Product Profile (TPP) is a critical and highly strategic document. The process used to create the TPP is also a vitally important strategic exercise. The TPP defines the winning profile for the asset, summarizing the product vision and aspiration, its positioning, and its relevant medical and scientific features, attributes and performance goals. It sets the strategic direction for the asset.

In rare diseases, developing the TPP is more complex. With RDs, there are often no clearly defined clinical and regulatory pathways, there are few experts to inform the key scientific and medical aspects of the TPP, and understanding payer needs and perspectives becomes more challenging.

Blue Matter understands that no two rare diseases are the same. We’ve used our knowledge of RDs to devise comprehensive but customizable processes for:

  • Analyzing the market situation
  • Collecting internal and external input
  • Developing an initial TPP to guide product development and commercial strategy
  • Consistently optimizing the TPP throughout the development process

Patient Identification

Rare diseases mean rare patients. There are often high barriers to patient diagnosis and frequent misdiagnoses. That makes RD patients hard for pharmaceutical companies to recognize and find.

If a biopharma company isn’t effective at patient finding, the implications can be serious. It can slow patient recruitment and extend the development timeline. It can slow uptake and prevent a product from reaching its full potential.

Blue Matter helps customers to more effectively identify patients with a specific rare disease. We help clients:

  • Analyze the patient journey to diagnosis and the barriers to patient origination
  • Identify potential strategies for finding patients
  • Test, evaluate, and refine strategies using pilots
  • Implement full-scale patient finding strategies

Establish Rare Disease Centers of Excellence

It’s no secret that awareness of RDs is typically low among physicians, true experts are few and far between, and the research focus is limited. Because of this, it can often take a long time for patients to get properly diagnosed and treated.

Centers of Excellence (COEs) bring together multidisciplinary expertise in one place, serving as a locus for care, knowledge, and research in a disease state. COEs can be a critical part of a company’s rare disease strategy. Blue Matter helps clients to:

  • Identify scientific experts and develop engagement plans
  • Understand and map existing COEs and related networks
  • Determine what the optimal COE network would look like in a given RD
  • Identify options for leveraging existing COEs, improving them, or establishing new COE(s)
  • Develop COE plans of action and test referral networks on a pilot scale
  • Implement on a full-scale

Defining the Rare Disease Business Model & Building the Optimal RD Organization

The successful RD business model comprises three key elements:

  1. True Patient-Centricity: The most successful RD companies place the patient at the center of their business focus. They evaluate key decisions through the patient’s perspective. They also provide a range of support services that go “beyond the pill” and that holistically ease the patient burden.
  2. High-Touch Customer Model: RD patients are high-value from an economic standpoint. So are the prescribers who treat them, the payers who provide coverage, and other key players in the prescribing and delivery of RD medications. Those key customers justify a “high-touch” model that delivers premium support to them via executive key account management.
  3. RD Organizational Structure: To properly implement a patient-centric approach and the high-touch customer model, a biopharmaceutical company needs the proper organizational structure. It must be highly competent, sized correctly, and seamlessly integrated.

Unfortunately, most pharmaceutical companies are not organized to support this complex business model. We help clients

  • Analyze the patient and caregiver needs in a disease state to set up the patient-centric model
  • Determine what the high-touch customer model should look like
  • Define the optimal organizational model

Enter the European Market

Blue Matter helps clients from around the world enter the European market on a regular basis. To help RD companies do this, we combine our knowledge of rare diseases with our European market expertise.

We help clients

  • Understand the size of their rare disease opportunity in Europe
  • Determine whether to enter the market
  • Decide if it’s best to “go it alone” or work with a partner
  • Determine the optimal approach to commercialization
  • Develop the commercial strategy
  • Design the organization and the capabilities required for success

Ensure Successful Launch

For any pharmaceutical product, launch is a complex undertaking. It’s even more complex for RD products. Often, physician targeting is more difficult, patients are harder to find, various patient support services must be up and running, and more.

When you consider that RD launch teams are typically smaller and get fewer resources, it becomes an even more impressive feat to perform such a well-orchestrated set of activities. RD launch teams must use their resources as smartly and effectively as possible. They also must react to the rapidly changing regulatory and competitive environment in a nimble way.

Blue Matter combines is expertise in rare diseases with its in-depth launch capabilities to ensure the successful launch of RD products. Our capabilities encompass:

  • Launch Strategy
  • Launch Readiness Assessment
  • Launch Operational Planning, including detailed functional plans using RD LaunchPadTM


Contact Us to learn more.