Landscape Analysis of Initiatives to Improve Access to Orphan Drugs Led by Industry Patient and Academic Stakeholders
Author(s)
Richard Macaulay, PhD1, Anika Mavinkurve, MPH2, Joel Iff, PharmD, PhD3, Susan J Ward, Ph.D.4.
1Precision AQ, London, United Kingdom, 2Precision AQ, New York, NY, USA, 3Sarepta Therapeutics, Cambridge, MA, USA, 4Collaborative Trajectory Analysis Project (cTAP), Cambridge, MA, USA.
1Precision AQ, London, United Kingdom, 2Precision AQ, New York, NY, USA, 3Sarepta Therapeutics, Cambridge, MA, USA, 4Collaborative Trajectory Analysis Project (cTAP), Cambridge, MA, USA.
OBJECTIVES: 95% rare diseases have no FDA-approved therapy, and there are even fewer EMA-approved rare disease therapies. Further, orphan medicines that receive EMA-approval often fail the reimbursement/health technology assessment (HTA) hurdle. Reasons are complex and include the difficulties in meeting payer evidence standards in the face of challenging data collection. Multiple groups have undertaken initiatives to examine and potentially address the underlying challenges to secure approval and HTA/payor requirements. This research critically evaluates these groups and their activities.
METHODS: A targeted literature review was conducted in May 2025 employing a structured search strategy to identify academic publications, industry reports, and patient advocacy materials relevant to access challenges relevant to rare diseases. The aims and activities of each group were extracted in the context of 4 pre-specified pillars: 1) Payer evidence standards, 2) Acceptability of real-world evidence (RWE), 3) Patient centredness/voice in HTA, 4) Affordability.
RESULTS: The total number of identified groups was 21 and groups whose stated objectives included a focus on each pillar were: 5, 6, 11, and 8, respectively. However, the number of groups reporting recent (2024/2025) results/activities by pillar was only: 1/5, 2/6, 3/11, and 1/8, respectively. Most (17/21) of these groups’ activities focus on awareness-building initiatives such as webinars, white papers, and reports on challenges within pillars, rather than undertakings to specifically address/action identified challenges. While several organizations have developed specific tools including frameworks/models, decision-making support resources, and RWE/data-collection tools, they tended to be country and/or disease-specific, limiting widespread usability.
CONCLUSIONS: There is a gap to empower the global rare disease community to navigate complex HTA processes and advance patient access to innovative therapies. This could potentially be addressed by a consortium focused on prioritizing challenges, developing innovative solutions and policy recommendations for evidence generation, value demonstration, and access to therapies in rare disease.
METHODS: A targeted literature review was conducted in May 2025 employing a structured search strategy to identify academic publications, industry reports, and patient advocacy materials relevant to access challenges relevant to rare diseases. The aims and activities of each group were extracted in the context of 4 pre-specified pillars: 1) Payer evidence standards, 2) Acceptability of real-world evidence (RWE), 3) Patient centredness/voice in HTA, 4) Affordability.
RESULTS: The total number of identified groups was 21 and groups whose stated objectives included a focus on each pillar were: 5, 6, 11, and 8, respectively. However, the number of groups reporting recent (2024/2025) results/activities by pillar was only: 1/5, 2/6, 3/11, and 1/8, respectively. Most (17/21) of these groups’ activities focus on awareness-building initiatives such as webinars, white papers, and reports on challenges within pillars, rather than undertakings to specifically address/action identified challenges. While several organizations have developed specific tools including frameworks/models, decision-making support resources, and RWE/data-collection tools, they tended to be country and/or disease-specific, limiting widespread usability.
CONCLUSIONS: There is a gap to empower the global rare disease community to navigate complex HTA processes and advance patient access to innovative therapies. This could potentially be addressed by a consortium focused on prioritizing challenges, developing innovative solutions and policy recommendations for evidence generation, value demonstration, and access to therapies in rare disease.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
HTA217
Topic
Health Policy & Regulatory, Health Technology Assessment, Organizational Practices
Topic Subcategory
Decision & Deliberative Processes, Systems & Structure
Disease
Rare & Orphan Diseases