Registry Participation in Rare Diseases: Insights from Stakeholders and an Adapted Targeted Literature Review (ATLR)
Author(s)
Nivantha Subiron-Naidoo, MPH, MSc, MD1, Alissar Moussallem, PharmD, MPH1, Joseph Milce, MBA1, Lysel Brignoli, MS1, Alexa Berk, MA, PhD2, Thomas Neumann, MD3, Bertold Ries, MS4, Camilla Wensing, Higher School Certificate5, Perrine Le Calvé, MSc1.
1Oracle Life Sciences, Paris, France, 2Oracle Life Sciences, West Hartford, CT, USA, 3Division of Rheumatology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland, 4Independent, Sissach, Switzerland, 5Swiss Haemophilia Society, Interlaken, Switzerland.
1Oracle Life Sciences, Paris, France, 2Oracle Life Sciences, West Hartford, CT, USA, 3Division of Rheumatology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland, 4Independent, Sissach, Switzerland, 5Swiss Haemophilia Society, Interlaken, Switzerland.
OBJECTIVES: Registries are an essential research tool towards improving rare disease diagnosis, management, and long-term health outcomes. Although registry participation is associated with administrative, logistical, or privacy burdens, patients with rare disease (PRD) and their caregivers (CG) may find altruistic benefits such as contributing to research or advocacy, in providing information and accessing support network.
METHODS: To explore strategies for optimal registry engagement, we hosted a workshop, “Unlocking Registry Success - Best Practices for Patient Engagement” during a rare disease summit and conducted an ATLR for a thematic analysis of evidence on patient/caregiver voices with respect to rare disease registry participation. A targeted search algorithm was applied to MEDLINE to identify and screen peer-reviewed scientific journal articles in English since 2020. In addition to databases search, a targeted web-based sites search was conducted using keywords of interest. “The Voice of Rare Disease Patients” EURODIS 2013 report was leveraged as a foundational resource to inform a preliminary thematic framework and guide data extraction.
RESULTS: Insights from diverse stakeholders in the workshop highlighted four thematic domains: trust and credibility (trusted sources, transparency in communication, equitable compensation, ability to provide feedbacks), personal benefits (understand the value of participation - both at a personal and community level, relevance of data collected), ease of participation (low burden, flexibility and simplicity), and humanistic connection (community engagement, patient-centricity, communication). Together, these factors are key motivators to drive recruitment and sustain participation. The ATLR search strategy identified no eligible publications from web-based sites (N=5 sites) nor from bibliographic database output (N=258 publications).
CONCLUSIONS: The findings highlight a knowledge gap where there is little to no published evidence on the experiences of PRD nor CG with registry participation. This, along the workshop’s insights, indicates an imperative to collect patient and caregiver experiential knowledge to inform patient-centered engagement strategies and improve recruitment and retention.
METHODS: To explore strategies for optimal registry engagement, we hosted a workshop, “Unlocking Registry Success - Best Practices for Patient Engagement” during a rare disease summit and conducted an ATLR for a thematic analysis of evidence on patient/caregiver voices with respect to rare disease registry participation. A targeted search algorithm was applied to MEDLINE to identify and screen peer-reviewed scientific journal articles in English since 2020. In addition to databases search, a targeted web-based sites search was conducted using keywords of interest. “The Voice of Rare Disease Patients” EURODIS 2013 report was leveraged as a foundational resource to inform a preliminary thematic framework and guide data extraction.
RESULTS: Insights from diverse stakeholders in the workshop highlighted four thematic domains: trust and credibility (trusted sources, transparency in communication, equitable compensation, ability to provide feedbacks), personal benefits (understand the value of participation - both at a personal and community level, relevance of data collected), ease of participation (low burden, flexibility and simplicity), and humanistic connection (community engagement, patient-centricity, communication). Together, these factors are key motivators to drive recruitment and sustain participation. The ATLR search strategy identified no eligible publications from web-based sites (N=5 sites) nor from bibliographic database output (N=258 publications).
CONCLUSIONS: The findings highlight a knowledge gap where there is little to no published evidence on the experiences of PRD nor CG with registry participation. This, along the workshop’s insights, indicates an imperative to collect patient and caregiver experiential knowledge to inform patient-centered engagement strategies and improve recruitment and retention.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
PCR208
Topic
Epidemiology & Public Health, Patient-Centered Research, Real World Data & Information Systems
Topic Subcategory
Patient Engagement
Disease
Rare & Orphan Diseases