All Insights Article Navigating the Pharma Commercial Models for Rare Diseases

    Navigating the Pharma Commercial Models for Rare Diseases

    Rare Diseases

    Navigating the Pharma Commercial Models for Rare Diseases

    In this article, we will explore the intricacies of the pharmaceutical commercial model for rare diseases, considering key definitions, challenges, and the considerations that set these diseases apart.

    Navigating the Pharma Commercial Models for Rare Diseases

    Rare diseases, often called orphan diseases, pose unique challenges for patients and pharmaceutical companies. With limited patient populations, developing effective treatments for rare diseases requires a distinct approach. Pharmaceutical commercial models for rare diseases must be innovative, patient-centric, and collaborative to address the complex nature of these conditions. In this article, we will explore the intricacies of the pharmaceutical commercial model for rare diseases, considering key definitions, challenges, and the considerations that set these diseases apart.

    What Is a Rare Disease?

    The Orphan Drug Act defines rare diseases as those affecting fewer than 200,000 individuals in the United States.1 This designation incentivizes pharmaceutical companies to invest in developing treatments for these conditions, including tax credits and extended market exclusivity. About 7,000 rare diseases have been identified globally, with an estimated 350 million people affected.2 Despite that number, each disease—individually—impacts a small patient population and is often challenging to diagnose.

    What Are the Significant Challenges for Rare Disease Products?

    • Clinical trials: Recognizing that not every product will progress through the development pipeline is crucial. Companies must strategically plan and prioritize their investments, considering the unique challenges of rare diseases. Given the limited patient pool, designing efficient clinical trials becomes imperative. Collaborative and innovative approaches for clinical trial designs are gaining traction. They optimize resources and accelerate the development process as the cost of development of such products is remarkably high.

    • Patient identification: In rare diseases, identifying the correct patients and caregivers is a massive challenge as the small patient pool and the data have significant coverage gaps. Typically, the sales rep or field intelligence, along with the associated tests or lab data of the disease, is relied upon heavily for HCP (healthcare physician) and patient targeting. Personalized and patient-centric approaches are essential in the development and commercialization process.

    • Awareness: Rare diseases often have an extremely high unmet medical need, and disease awareness among healthcare professionals and the public is typically low. Education and patient advocacy play a critical role in addressing this challenge.

    • Patient journey and referral patterns: Managing a rare disease could be overly complex for patients, as they often involve intricate diagnostic processes and treatment pathways. Understanding the unique patient journey and referral patterns is essential to collaborate with healthcare professionals on time for accurate diagnosis.

    • Differentiated products: The scarcity of treatment options for rare diseases results in differentiated and novel products with minimal to no competition. Though this opens opportunities for companies to establish themselves as pioneers in the field, it also opens much regulatory oversight. Risk Evaluation and Mitigation Strategies (REMS) tailored to the specific needs of rare diseases are becoming increasingly essential to ensure patient safety and appropriate use of medications.

    Who Are the Key Stakeholders in the Commercialization Journey of Orphan Drugs?

    There are four key stakeholders:

    # Stakeholder Challenges Mitigation Strategy


    Patients Limited treatment options, access issues Patient assistance programs, advocacy groups, and increased awareness


    HCPs/hospitals Limited expertise, diagnostic challenges Education, collaborative partnerships, and specialized training programs


    Payers Cost concerns, limited evidence Value-based pricing, evidence generation, and collaboration on access initiatives


    Patient advocacy groups Limited resources, awareness Partnerships with pharmaceutical companies, awareness campaigns, and advocacy for policy changes

    What Are the Different Commercial Models and Strategies for Rare Diseases?

    Pharmaceutical companies should focus on patient-centricity while designing different customer-facing roles. Specialized focus and a deep understanding of the product or therapy are paramount while creating a commercial model. Some key responsibilities that commercial or medical teams need to cater to are:

    • Demand generation: Engage with the doctors and hospitals and drive sales . Many rare disease products (especially in the oncology domain) can only be administered in specialized hospital settings, making account management one of the critical skills of field personnel.

    • Support or service: Support the customers in the process and challenges of drug treatment, administration, and reimbursements.

    • Payer-oriented: Engage with the payers and get access to the drug.

    • Medical expertise: Engage with Key Opinion Leaders (KOLs) and high-value prescribers on deep scientific discussions about different treatment paradigms.

    What Are Some of the Critical Considerations for Resourcing in Rare Diseases?

    • Striking a balance in resourcing is critical as overinvestment could make the operations financially unviable, while underinvestment would lead to a significant loss of opportunity. Understanding the addressable market and related physician networks is crucial for effective resource allocation and deployment.

    • The geographical element or size of the territory also needs to be baked in while deciding the final Full-Time Equivalents (FTEs). The territory of sales reps in this therapy area will be massive compared to the traditional diseases.

    • Market access, competition, and ease of diagnosis are other vital factors determining appropriate resourcing levels across roles.

    Commercializing via co-promotion and Contract Sales Organization (CSO) collaborations can help optimize resources and increase market penetration.

    What Are Some Vital Regulatory Considerations?

    • Orphan drug designation: Seeking orphan drug designation can incentivize pharmaceutical companies, including extended market exclusivity and reduced regulatory fees. This encourages investment in research and development for rare diseases.

    • Expedited regulatory pathways: Collaboration with regulatory agencies to accelerate the approval process for rare disease treatments is vital. Specialized regulatory pathways, such as the FDA's Breakthrough Therapy Designation3, can accelerate the development and commercialization of promising therapies.

    The pharmaceutical commercial model for rare diseases requires a unique and adaptive approach. As the industry evolves, it is essential to recognize the distinct challenges and opportunities of rare diseases and continue innovating to improve patient outcomes. By embracing patient-centricity, fostering collaboration, and leveraging advanced analytics, the pharmaceutical industry can make significant strides in solving the complexities of rare diseases and delivering much-needed therapies to those living with the conditions.


    1. The Orphan Drug Act Implementation and Impact. US Department of Health and Human Services. May 2001. Accessed March 14, 2024.
    2. Danby P. Feature: Why rare diseases are key for scientific discovery. UCL News. February 28, 2023. Accessed March 14, 2024.
    3. Breakthrough Therapy. US Food & Drug Administration. April 1, 2018. Accessed March 14, 2024.

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