Project Summary

Background: The Glut1 Deficiency Foundation has made significant strides in building a patient-led collaborative research network and identifying patient priorities for the most meaningful research for this rare disease; however, gaps and deficiencies remain. To take the next best steps in efforts to continue building a strong, empowered, informed and engaged research community, stakeholders need to be better educated on the principles of patient-centered outcomes research, the critical role patients play in the research process, and how they can best engage to ensure research is relevant and meaningful and more likely to improve outcomes. Patients and families clearly want and need easier, more effective treatments, so the community needs to more fully understand how best to center and focus efforts and be able to compare these treatments against the current standard of care.

Proposed Solution to the Problem: This project will build on the successes of the team’s past PCORI project for adult experiences in Glut1 Deficiency and will broaden that focus and scope to all stakeholder groups to create a framework to continually engage the community in meaningful ways, assess needs and priorities, fill gaps, plan programs, build relationships, increase research literacy, and ensure patient voices are centered in and directing the research process.

Objectives: This project aims to further refine priorities, identify needs and educate stakeholders. The specific objectives will be to:

  1. Develop a model program and practical strategies to educate and engage the community on the importance of patient-centered outcomes research/comparative clinical effectiveness research (PCOR/CER), the critical role each can play and how to effectively promote PCOR/CER among all stakeholders
  2. Increase PCOR/CER literacy and readiness
  3. Create a framework for ongoing assessment of PCOR/CER priorities and needs to ensure research is patient-centered, and strengthen relationships and form new partnerships and collaborations across all stakeholders

Activities: To help meet these objectives, the project team will develop a PCOR educational module, host training opportunities in diverse settings, create a patient advisory board, and develop an ongoing system to capture patient needs and priorities.

Projected Outcomes and Outputs:

Short-term outcomes during the project period include: the educational program developed to train patients and families on PCOR/CER, a patient engagement plan developed and refined to recruit participation, training sessions scheduled and held, a patient advisory board established, regular feedback analyzed and reported from the training sessions and used to update PCOR/CER training curriculum, a project summary report created and informational resources created and disseminated in the community.

Medium-term outcomes (0-2 years post project period) include: the most meaningful PCOR/CER outcomes identified based on patient priorities, increased natural history study participation, expanded biorepository samples available, and strengthened and expanded partnerships and collaborations.

Long-term outcomes (3+ years post project period) include: clinical trial and PCOR/CER readiness with an educated and empowered community, clearly defined patient-centered outcomes, robust natural history data, expansive and diverse biorepository samples, continuously updated patient-led Research Compass, and a strong collaborative stakeholder network.

Patient and Stakeholder Engagement Plan: Stakeholders include patients diagnosed with Glut1 Deficiency and their families and caregivers, clinicians who provide patient care, researchers who study to try to better understand this disease, and industry stakeholders who develop products and treatments. This project proposal was developed from engagement activities in focus groups, previous survey results, and representative stakeholder participation in the leadership team and advisory boards. Continued engagement will be achieved through the activities outlined throughout the project with frequent feedback collected and used to assess and improve participation.

Project Collaborators: Collaborations will be created with local medical experts to participate in the regional in-person training sessions.

Project Information

Sandra Ojeda, PhD
Glut1 Deficiency Foundation

Key Dates

May 2025


Project Status
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: April 3, 2024