<\/p>\n
Contextualization of Rare Diseases<\/b><\/p>\n
In 2025, the World Health Organization (WHO) classified rare diseases as <\/span>\u201ca global health priority for equity and inclusion\u201d<\/span><\/i> and reinforced the recommendation that countries develop national strategies to address this issue in a more coordinated way (WHO 2025). This initiative is timely: it is estimated that up to 300 million people are affected worldwide, across more than 7,000 different conditions (NIH 2022; WHO 2025).<\/span><\/p>\n <\/p>\n Although \u201crare,\u201d they are not so distant from everyday medical practice. For example, the National Organization for Rare Disorders (NORD) reports that 1 in every 10 Americans lives with a rare disease \u2014 about 30 million people in the U.S. alone (NORD 2022). In Europe, initiatives such as <\/span>Orphanet<\/span><\/i> map thousands of low-prevalence pathologies, gathering data on incidence, prevalence, and treatments \u2014 although nearly 95% of them still lack approved therapies (NORD 2022).<\/span><\/p>\n <\/p>\n What is a rare disease?<\/b><\/p>\n In Brazil, the National Health Surveillance Agency (Anvisa) defines a rare disease as one that affects up to 65 people per 100,000 inhabitants (Minist\u00e9rio da Sa\u00fade 2020; RDC n\u00ba 205\/2017). Although the definition is numerical, these diseases share common challenges: they are generally severe, chronic, and progressive, significantly impacting patients\u2019 and families\u2019 quality of life (Caffrey 2021 BMJ).<\/span><\/p>\n <\/p>\n Challenges of Rare Diseases<\/b><\/p>\n In England, a recent study analyzed medical records from 58 million people and identified more than 300 rare diseases, corresponding to about 1.5% of the population studied. On average, these patients take more than five years to receive an accurate diagnosis and also face a shortage of specialists sufficiently familiar with each condition (Thygesen 2025).<\/span><\/p>\n The picture is complex, but there are signs of progress. Since the 1980s\u2014especially after the approval of the Orphan Drug Act in the United States\u2014research and development of orphan drugs have gained momentum, driven by incentives designed to stimulate the launch of therapies for very small populations (NORD 2022; FDA 2023).\u00a0<\/span><\/p>\n <\/p>\n At a global scale, collaboration among laboratories, healthcare professionals, academic researchers, regulators, and patient associations has been encouraged by organizations such as the National Institutes of Health (NIH) and the European Medicines Agency (EMA), with the goal of identifying urgent clinical needs and expediting the availability of therapeutic solutions (NIH 2022; NICE 2022; Rambaran 2024 JAMA).<\/span><\/p>\n With this focus, in 2017 Anvisa published a resolution to accelerate research and regulatory approval of new therapies aimed at these conditions\u2014therapies capable of positively impacting the lives of patients and families. Even so, challenges such as early diagnosis and the complexity of approving new therapeutic options remain (RDC n\u00ba 205\/2017).\u00a0<\/span><\/p>\n In parallel with advances in research, the WHO and NIH emphasize the importance of providing comprehensive and humanized care for these individuals, including:<\/span><\/p>\n <\/span><\/li>\n <\/span><\/li>\n <\/span><\/li>\n <\/span><\/li>\n In addition, it is worth highlighting the generation of real-world evidence to demonstrate clinical and economic benefits, which is particularly relevant for price and reimbursement negotiations in public and private healthcare systems (Kesselheim 2019 N Engl J Med).<\/span><\/p>\n This set of actions is essential so that those living with these conditions are not, literally, \u201ctoo rare to matter,\u201d but are recognized and included in public health policies.<\/span><\/p>\n Thus, although they are called \u201crare,\u201d these diseases represent a vast and nuanced universe. As the regulatory and scientific landscape shows, each step in structuring clear national strategies and partnerships among various stakeholders can represent a major leap in the quality of life of those with a chronic, complex condition often invisible to the rest of society.<\/span><\/p>\n <\/p>\n The Pharmaceutical Market and Marketing Challenges in Rare Diseases<\/b><\/p>\n Even with the expansion of incentive policies and growing global attention to rare diseases, the pharmaceutical market still faces considerable barriers to launching and sustaining products in these areas (WHO 2025). On one hand, there is fertile ground for innovation and highly specialized therapies; on the other, regulatory and economic uncertainties prevail, influencing companies\u2019 strategic planning.<\/span><\/p>\n Scale and Return on Investment<\/b><\/p>\n Drugs intended for rare diseases, called orphan drugs (NORD 2022), carry risks associated with lower returns on investment: the industry must balance high research and development (R&D) costs with potentially smaller sales. This justifies the adoption of incentives such as extended market exclusivity, tax benefits, and registration facilitation, as in the U.S. Orphan Drug Act and Brazil\u2019s RDC n\u00ba 205\/2017 (FDA 2023; RDC n\u00ba 205\/2017).<\/span><\/p>\n <\/p>\n Therapeutic Innovation and High Cost<\/b><\/p>\n A distinctive feature of rare diseases is the possibility of disruptive therapies, such as gene therapies or next-generation biologics. Although they open new market opportunities, these solutions demand substantial R&D investments, resulting in treatment costs that may exceed millions of dollars per year (Kesselheim 2019 N Engl J Med). This scenario puts pressure on health systems, which must assess cost-effectiveness and sustainability, as well as on pharmaceutical companies, which need to justify high prices with data on efficacy and clinical impact (NICE 2022).<\/span><\/p>\n <\/p>\n Access Complexity and Scarcity of Extensive Data<\/b><\/p>\n Another challenge is <\/span>market access<\/span><\/i>, as price and reimbursement negotiations with payers (public or private) depend on robust data that demonstrate clear clinical value. In many cases, the low incidence of the disease makes it difficult to conduct extensive clinical trials, reducing the statistical power of the research (Thygesen 2025). At the same time, regulatory agencies such as EMA and Anvisa require long-term safety and efficacy evidence, particularly since these are often unprecedented therapies (RDC n\u00ba 205\/2017).<\/span><\/p>\n <\/p>\n Competition and Differentiation<\/b><\/p>\n Even though the patient population is smaller, more and more companies are investing in this niche, intensifying competition. Differentiation strategies \u2014 whether through additional clinical benefits, new formulations, or patient support programs \u2014 become crucial to demonstrate that a drug offers more than what already exists (NORD 2022).<\/span><\/p>\n <\/p>\n Regulation and Compliance<\/b><\/p>\n In several countries, including Brazil, there are strict rules governing drug advertising and promotion, both for the general public and healthcare professionals (Mailankody 2017). Examples include the ban on direct-to-consumer (DTC) advertising in some markets and the requirement for educational materials to undergo a rigorous review process. The purpose of these laws and guidelines is to preserve patient safety, the accuracy of information, and company transparency. Consequently, companies must adopt robust compliance practices, creating communication materials that meet all legal requirements \u2014<\/span> a process that often demands specialized teams capable of balancing creativity, scientific rigor, and regulatory conformity.<\/b><\/p>\n However, this set of rules and successive approvals can impose delays or restrictions on marketing and communication strategies, especially in the case of orphan drugs, where there is urgency to make therapies available. Thus, even with incentive policies, the path to marketing treatments for rare diseases demands carefully developed tactics that ensure clarity of information and compliance with ethical and legal standards (Mailankody 2017; RDC n\u00ba 205\/2017).<\/span><\/p>\n <\/p>\n Multidisciplinary Collaboration<\/b><\/p>\n The shortage of specialists with experience in rare diseases is one of the biggest obstacles to adequate diagnosis, treatment, and follow-up of these patients. Therefore, collaboration among different professionals becomes indispensable (NIH 2022; Thygesen 2025).<\/span><\/p>\n The creation of <\/span>reference centers<\/b>, composed of <\/span>multidisciplinary teams<\/b> \u2014 clinicians, geneticists, neurologists, pharmacists, nurses, therapists, and other professionals \u2014 promotes knowledge exchange and strengthens the continuum of care. These centers also serve as hubs for training, specialized care, and collection of relevant clinical data (WHO 2025; NIH 2022).<\/span><\/p>\n <\/p>\n Partnerships among stakeholders<\/b><\/p>\n Partnerships among stakeholders\u2014such as reference centers, patient associations, medical organizations, and researchers\u2014are essential in the rare-disease context to:\u00a0<\/span><\/p>\n <\/span><\/li>\n <\/span><\/li>\n <\/span><\/li>\n <\/span><\/li>\n<\/ul>\n Thus, the pharmaceutical market for rare diseases balances high innovation potential with uncertain returns, demanding marketing approaches guided by:\u00a0<\/span><\/p>\n Value Approach and Differentiation in Rare Diseases<\/b><\/p>\n To stand out in a market as specific as that of rare diseases, companies must clearly and objectively demonstrate the <\/span>clinical and social value<\/b> their product offers (Kesselheim 2019 N Engl J Med). This includes arguments that justify not only the efficacy and safety of the medicine, but also its impact on the quality of life of patients and families \u2014 many of whom often have no other treatment options available.<\/span><\/p>\n <\/p>\n Building Value Arguments<\/b><\/p>\n In general, the development and commercialization costs for these therapies are high, which is reflected in elevated prices. Therefore, manufacturers must support their value propositions with robust data and methodologies recognized by evaluating agencies (NICE 2022). Examples of tools that legitimize results include:<\/span><\/p>\n <\/p>\n Use of Economic and Social Data<\/b> <\/p>\n In addition, psychosocial impacts \u2014 such as reducing caregiver burden and improving patients\u2019 ability to attend school or work \u2014 can be decisive differentiators in well-supported dossiers (Rambaran 2024 JAMA).<\/span><\/p>\n <\/p>\n Creating Narratives that Engage Stakeholders<\/b><\/p>\n An important part of differentiation also lies in <\/span>how pharmaceutical companies communicate their product<\/b>. It is common to use narratives that highlight the stories of real patients, illustrating how the new therapy transforms lives (NORD 2022). These stories, combined with clinical data, strengthen connections with patient associations, healthcare professionals, and regulators.<\/span><\/p>\n Another fundamental strategy is <\/span>close collaboration with patient associations, medical societies, and reference centers<\/b>, joining forces to develop clinical protocols and usage guidelines. This relationship not only enhances the scientific legitimacy of the therapy but also increases awareness among medical and public communities (NIH 2022). Ultimately, this synergy facilitates drug adoption in the market and consolidates the manufacturer\u2019s reputation as a responsible ally in the fight against rare diseases.<\/span><\/p>\n Therefore, the <\/span>value approach and differentiation<\/b> in rare diseases cannot be limited to marketing slogans or a technical dossier. It is necessary to combine <\/span>robust evidence, empathetic narratives, and strategic partnerships<\/b>, showing that the company goes beyond delivering a product: it is committed to offering real solutions for a group of patients who, historically, have had fewer treatment opportunities.<\/span><\/p>\n <\/p>\n Market Access and Reimbursement Policies in Rare Diseases<\/b><\/p>\n In the rare disease landscape, achieving <\/span>market access<\/span><\/i> \u2014 that is, ensuring that the drug is incorporated into healthcare systems and made available to patients \u2014 is one of the greatest challenges (Thygesen 2025). The high cost of orphan therapies, stemming from the complexity of research and development, raises budgetary concerns for both public and private payers (Kesselheim 2019 N Engl J Med).<\/span><\/p>\n Access Dossiers and Price Negotiations<\/b> <\/p>\n Thus, in incorporation or coverage negotiations, pharmaceutical companies must present <\/span>solid data on efficacy, safety, cost-effectiveness, and financial viability<\/b>, demonstrating the value of the therapy in contexts where few or no treatment options exist (Kesselheim 2019 N Engl J Med; NICE 2022; NIH 2022). Even when a medicine is recognized as \u201corphan,\u201d additional requirements may arise to ensure that its high cost is proportional to the benefits offered. In this process, the use of <\/span>real-world evidence<\/b> has gained relevance, as it reinforces clinical outcomes and effectiveness in broader populations and everyday practice settings (FDA 2023).<\/span><\/p>\n <\/p>\n Expanded Access and Compassionate Use Regulations<\/b><\/p>\n To reinforce value arguments and broaden market penetration, many pharmaceutical companies provide the therapy free of charge, even before formal approval, through <\/span>expanded access programs<\/b> and <\/span>compassionate use<\/b> mechanisms (RDC n\u00ba 38\/2013). This ensures that patients without therapeutic alternatives are not left unattended during regulatory review.<\/span><\/p>\n In addition, after registration, some companies maintain <\/span>patient support programs<\/b> to help ensure correct use of the drug and facilitate collection of additional clinical information (Rambaran 2024 JAMA). These mechanisms also allow healthcare professionals to become familiar with the treatment and its monitoring in daily practice.<\/span><\/p>\n <\/p>\n Example of Risk-Sharing: Zolgensma in SUS<\/b><\/p>\n In certain cases, technology incorporation involves <\/span>performance-based agreements<\/b>, where payment is conditioned on the clinical outcomes achieved. An example of this approach was adopted in March 2025, when Brazil incorporated <\/span>Zolgensma\u00ae<\/b> for the treatment of Spinal Muscular Atrophy (SMA) type 1 into the public health system (Minist\u00e9rio da Sa\u00fade 2024). The Ministry of Health began making payments as patients reached specific motor milestones. This reduces financial risk for the health system while requiring the manufacturer to provide practical proof of the drug\u2019s effectiveness.<\/span><\/p>\n <\/p>\n Outcome: Aligning Value and Viability<\/b><\/p>\n For orphan drugs to effectively achieve market access, it is crucial to adopt a <\/span>strategic approach that combines consistent clinical and pharmacoeconomic evidence, strong partnerships with health systems, and flexible negotiation models<\/b> \u2014 such as outcome-based payment, as exemplified by the Zolgensma\u00ae case (Minist\u00e9rio da Sa\u00fade 2024).<\/span><\/p>\n When well executed, these strategies allow innovative therapies to reach those who need them most, transforming the prognosis of diseases that previously lacked treatment options (Thygesen 2025).<\/span><\/p>\n <\/p>\n Communication Strategies with Stakeholders: Engagement and Continuing Medical Education<\/b><\/p>\n <\/p>\n In the world of rare diseases, <\/span>effective communication with stakeholders is crucial<\/b> to:<\/span><\/p>\n This section addresses two essential fronts: <\/span>the engagement of patient associations and advocacy groups<\/b>, and <\/span>continuing medical education (CME)<\/b> targeted both at reference centers and Key Opinion Leaders (KOLs), as well as at primary care professionals.<\/span><\/p>\n <\/p>\n Engagement of Patient Associations and Advocacy Groups<\/b><\/p>\n Collaboration with patient associations is highly productive in the development of <\/span>disease awareness campaigns<\/b> and also in engaging stakeholders in decisions about purchasing or prescribing orphan therapies (Rambaran 2024 JAMA).<\/span><\/p>\n Patient associations and advocacy groups play a <\/span>fundamental role in giving voice to those living with rare diseases<\/b>. These organizations provide direct support to patients and families, share real experiences, and influence the healthcare policy agenda. By collaborating with them, pharmaceutical companies can:<\/span><\/p>\n Continuing Medical Education (CME)<\/b><\/p>\n Due to the low prevalence and complexity of rare diseases, many healthcare professionals struggle to stay updated on the signs, diagnostics, and treatments of these conditions. <\/span>Investing in CME is therefore essential to improve care.<\/b><\/p>\n To deepen investigations, confirm diagnoses, and manage therapies, the focus must be on <\/span>reference centers and KOLs<\/b>, who concentrate expertise and disseminate the latest scientific evidence (NIH 2022; NICE 2022; Rambaran 2024 JAMA).<\/span><\/p>\n However, it is equally important to <\/span>train primary care professionals<\/b>, who are usually the first to identify signs suggestive of a rare disease. Studies indicate that many patients wait more than five years for an accurate diagnosis, largely due to the lack of specific knowledge among these physicians (Thygesen 2025; NIH 2022). Targeted initiatives for front-line professionals can accelerate referrals to specialized centers, contributing to earlier diagnoses and better prognoses.<\/span><\/p>\n <\/p>\n Integration of Engagement and Education<\/b><\/p>\n <\/p>\n The combination of <\/span>patient-association engagement<\/b> with a robust <\/span>CME strategy<\/b> forms an important pillar for transforming the rare-disease landscape. This integrated approach enriches medical practice, accelerates knowledge dissemination, and strengthens market-access negotiations, facilitating access to therapies that can radically change patients\u2019 lives.<\/span><\/p>\n <\/p>\n How a Specialized Agency Can Leverage Results<\/b><\/p>\n <\/p>\n A specialized agency, such as <\/span>KACHI<\/b>, can support the transformation of pharmaceutical market challenges in rare diseases into opportunities for growth and consolidation through an <\/span>integrated approach<\/b> that encompasses scientific communication, multichannel strategies, relationship management, and market access consulting.<\/span><\/p>\n <\/p>\n Scientific Communication Consulting<\/b><\/p>\n <\/p>\n Producing clear, rigorous, and audience-adapted educational materials is essential to translate complex information into accessible messages. By developing content that respects compliance standards and current legislation, the agency ensures that messages convey <\/span>credibility and safety<\/b> both to healthcare professionals and to the general public. This type of consulting not only strengthens the pharmaceutical company\u2019s image but also contributes to the dissemination of scientific knowledge \u2014 which is fundamental for advances in the diagnosis and treatment of rare diseases.<\/span><\/p>\n <\/p>\n Multichannel Strategies<\/b><\/p>\n To expand the reach of messages, KACHI develops <\/span>marketing campaigns and plans<\/b> with tailored, integrated actions across in-person and digital channels. Examples include:<\/span><\/p>\n![\"\"](\"https:\/\/www.kachi.com.br\/wp-content\/uploads\/2025\/10\/Rares-diseases_2-1024x384.png\")
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\n<\/b>To convince payers, health-system managers, and government agencies to approve reimbursement or incorporation of a drug, it is essential to include:<\/span><\/p>\n\n
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Synergy with Patient Associations and Specialized Centers<\/b><\/h3>\n
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\n<\/b>In many markets, there are multiple payers (private insurers, public systems, among others), each with their own evaluation criteria and processes (NORD 2022). In addition, many governments enforce spending caps and budget containment policies, which require robust evidence that high prices are justified by clinical and social benefits (NICE 2022).<\/span><\/p>\n\n
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