In the second phase, the Center engaged stakeholders to develop a patient-centered framework and checklist for use in rare disease HTA. This work will result in the publication of the Rare Disease Patient Engagement Guidance and Checklist to support its use in guiding rare disease research and strengthening patient engagement.

To accomplish this, the Center:

• Gathered expert insights by forming a multi-stakeholder advisory group  that met regularly throughout the project to identify gaps and opportunities for patient engagement in rare disease HTA
• Translated insights into tools by developing the Rare Disease Patient Engagement Guidance and Checklist based on recommendations from the initial phase
• Explored real-world applications by hosting disease-specific meetings with patients, caregivers, clinicians, and researchers to develop three case studies (Sickle Cell Disease, Leukodystrophy, and generalized Myasthenia Gravis). These case studies demonstrate the checklist’s application across different rare disease contexts.