Rare diseases present significant challenges in both diagnosis and treatment due to limited clinical knowledge, small patient populations, and fragmented data sources. Patients often face diagnostic delays, and once diagnosed, treatment options may be scarce or non-existent. Currently, over 90% of rare diseases still lack an approved treatment, underscoring the urgent need for continued research and innovation. Although, encouragingly, the pace of rare disease drug approvals is accelerating and in the past several years, approximately 20 new drugs have been approved annually, with 2024 seeing a record 26 out of 50 newly approved drugs dedicated to rare diseases.
Developing treatments for rare diseases requires a fundamentally different approach compared to more prevalent conditions, with Key Opinion Leaders (KOLs) playing a critical role from the early stages. Rare disease KOLs serve as scientific, clinical, and strategic partners, guiding key decisions at every stage of development—from early disease characterization and trial design to regulatory navigation and post-marketing adoption. Their influence extends across diagnosis, clinical research, patient recruitment, and healthcare education, making them indispensable in translating scientific discoveries into accessible treatments. Given their expertise, medical affairs play a pivotal role in fostering these relationships, ensuring a collaborative approach to overcoming scientific, regulatory, and market access challenges.
In the article below, we explore the key areas where KOL engagement delivers the highest value, ensuring that rare disease research remains clinically relevant, patient-centered, and aligned with real-world patient needs. We will also discuss how leveraging data-driven approaches supports informed KOL identification, prioritization and engagement, ensuring teams can access the right experts more effectively.
Maximizing KOL Impact: From Diagnosis to Market Access
1. Early Diagnosis
Rare diseases are notoriously challenging to diagnose, with the average patient journey spanning over five years and involving multiple specialists. For many rare diseases, there is still no ICD10 code, leading to misclassification or groupings under broader disease categories which also makes tracking patient histories and overall disease prevalence via electronic health records very challenging. These delayed or missed diagnoses, and misleading medical coding, can significantly impact patient outcomes.
KOLs play a crucial role in improving early diagnosis by defining diagnostic criteria, raising awareness through education initiatives and training programs, and through their contributions to natural history studies, which map disease progression and inform biomarker development. By fostering collaboration between clinicians, researchers, and patient advocacy groups, KOLs help accelerate the recognition of rare diseases, leading to earlier referrals, faster diagnoses, and improved patient care. Medical affairs teams are instrumental in this process, leading the education programs, supporting KOLs in evidence generation, and driving strategic collaborations to enhance diagnosis and patient outcomes.
2. Driving Innovation in Clinical Development
Developing effective treatments for rare diseases requires a deep understanding of unmet needs, as small patient populations and unique disease characteristics make traditional clinical trial methodologies difficult to apply. KOLs play a critical role in shaping the clinical development strategy, ensuring that trials are both scientifically robust and feasible.
From the outset, KOLs help define meaningful clinical endpoints offering expertise on disease progression models, biomarkers, and clinically relevant thresholds to ensure trial outcomes are relevant to both patients and regulators. Their expertise in trial design is also instrumental when considering adaptive trial designs and the incorporation of real-world data, to improve feasibility and regulatory alignment.
Given the challenge of recruiting eligible participants, KOLs also support in patient identification and engagement, leveraging their connections to registries, advocacy groups, and specialist centers to enhance recruitment efforts. Beyond patient identification, the physician-patient relationship is essential in driving patient recruitment and retention, as many rare disease patients have had long arduous diagnostic journeys and may be hesitant to participate in clinical research due to fear of uncertainty or lack of available information. KOLs provide patients with credible, science-backed guidance, helping them understand trial objectives, potential benefits, and risks.
KOL influence also extends to site selection and investigator engagement, helping to ensure that trials are conducted at institutions with the necessary expertise, infrastructure, and patient access. Their involvement streamlines regulatory discussions, ensuring that study protocols align with evolving standards and that trial findings are effectively disseminated within the scientific and medical community.
Throughout the trial lifecycle, advisory boards and expert panels led by KOLs provide continuous feedback, refining protocols and proactively identifying challenges before they impact study timelines. This ongoing engagement enhances trial efficiency and ensures that research remains clinically meaningful and impactful for patients.
3. Facilitating Market Access and Treatment Adoption
Even after a drug receives approval, rare disease treatments often struggle with adoption due to healthcare provider (HCP) unfamiliarity, reimbursement hurdles, and the need for long-term data collection to demonstrate real-world effectiveness. This is where medical affairs can lead with impact and address these barriers by combining scientific insight, regulatory pathways, and market understanding.
To map the unique rare disease patient journey, medical affairs partner with KOLs, who play a key role in addressing gaps in patient pathways by supporting educational initiatives for HCPs, ensuring that referral networks are optimized, and helping disseminate crucial information about new treatments. KOLs also contribute to post-marketing surveillance efforts by monitoring patient outcomes, identifying emerging safety signals, and advocating for continued research into long-term treatment effects.
By engaging in real-world evidence generation and health economic assessments, KOLs support market access by demonstrating the long-term value of a new therapy. Medical affairs teams are uniquely positioned to support the specialized approaches needed for rare diseases and guide regulatory discussions and payer negotiations, helping to secure reimbursement decisions and fair access to life-changing treatments.
The Data Challenge: Finding the Right KOLs
Identifying and engaging the right KOLs in the highly specialized field of rare diseases is both critical and complex. Traditional methods—such as relying on personal networks or prioritizing industry visibility—can overlook rising stars in the field or specialists in emerging areas of research. Additionally, outdated datasets and historical associations may fail to capture the most influential and active experts today.
A data-driven approach to KOL identification can transform engagement strategies, ensuring pharmaceutical and biotech companies collaborate with the most relevant, influential, and emerging experts in a given rare disease area.
TA Scan: Redefining KOL Identification and Engagement
With over 8 million investigators, authors, and presenters listed within trial registries, publication and presentation sources, understanding which have experience, a medical degree, connections with competitors, or are just viable connections can be challenging. TA Scan prioritizes those with clinical experience or significant research contributions in a curated database of over 2.5 million healthcare professionals. This approach helps life science companies find the right experts efficiently, supporting them in monitoring existing relationships, identifying new, experienced, or emerging KOLs, and to stay up to date with emerging research talent. Teams can quickly and easily:
TA Scan provides global coverage, expanding far beyond major academic centers to enable the identification of naïve investigators via their scientific footprint. These clinicians can be paired with seasoned investigators through mentorship programs or referral networks, fostering collaboration and expertise transfer. This approach ensures broader reach and access to new investigators, even in the most niche areas.
- Identify Established Experts: Conduct a comprehensive review of KOLs with proven expertise in rare diseases through their contributions to clinical trials, publications, and presentations.
- Assess Influence: Measure the reach and impact of KOLs within their fields to prioritize engagement strategies effectively.
- Spot Emerging Talent: Track the latest research and identify rising global experts, building a strong network of future KOLs and principal investigators (PIs).
- Monitor Competitor Activity: Gain insights into competitor-associated KOLs, their publication and presentation activity, and benchmark fee disclosures per engagement.
- Leverage Regional & Global Presence: Balance local expertise with international impact, particularly in diseases with varied prevalence across regions.
By integrating real-time analytics and robust data tracking, TA Scan provides unparalleled visibility into the global rare disease KOL landscape, ensuring that companies build high-value collaborations that drive innovation and accelerate drug development.
KOLs: A Catalyst for Rare Disease Innovation
KOLs are more than just scientific experts—they are trusted voices that shape the future of rare disease research, fostering collaboration, raising awareness, and advocating for patients. Their ability to bridge academia, industry, and HCPs significantly enhances the impact of rare disease research efforts, helping to translate scientific breakthroughs into real-world therapeutic solutions.
At TA Scan, we are committed to empowering life sciences organizations with the insights and tools needed to strategically engage the right KOLs. By leveraging our data-driven tools and expertise, we help rare disease stakeholders build impactful partnerships that accelerate innovation and improve patient outcomes.
In rare disease research, engaging KOLs is not just a best practice – it is a critical factor in success.
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Authored by Jenna Morris, Executive Director of Data Solutions, Data Division
Jenna Morris, Executive Director of Data Solutions at Anju Software, brings over 18 years of expertise in data, clinical technology, and clinical research. Jenna supports Anju’s global data strategy, leveraging her extensive experience in optimizing clinical trial efficiency. Passionate about data-driven insights and advanced technologies, she focuses on building strategic operational frameworks that drive successful clinical programs. Jenna is committed to enhancing precision in clinical trial processes and maximizing outcomes for impactful research. Connect with Jenna on LinkedIn to learn more about her work and insights.
Authored by Elke Ydens, Associate Director of Business Solutions, Data Division
Elke Ydens, Associate Director of Business Solutions at Anju’s Data Division, brings over a decade of life sciences experience and a PhD in Biochemistry and Biotechnology from the University of Antwerp. As a Subject Matter Expert in Data Science, she adeptly addresses customer needs, leveraging her background in neuro-immunology and biochemistry. Elke remains dedicated to professional growth, contributing to industry publications, and staying updated on industry trends, while also finding success in extracurricular pursuits, formerly competing in world and European bridge championships, and more recently active in beekeeping and coaching. Connect with Elke on LinkedIn to explore her achievements further.