The Research Ready: Developing a Strong PCOR Foundation in the Glut1 Deficiency Community project was created to support and empower the community by helping patients, caregivers, and other community members become more informed and ready to take part in patient-centered comparative clinical effectiveness research (CER). 

GLUT1 Deficiency is a rare genetic neurodevelopmental condition that impairs brain glucose metabolism leading to a broad range of symptoms and a broad range of severity. The classical symptoms for GLUT1 Deficiency include seizures, developmental delay, speech and communication issues and movement disorders. The current standard of care treatment, a strict medical ketogenic diet, can be difficult to follow, doesn’t help with all the symptoms, and doesn’t work for everyone. With few other options available, families urgently need better treatments and better ways to participate in research that could lead to their timely development.

To meet this need, the project focused on helping patients, caregivers, and other community members become more informed and ready to take part in patient-centered comparative clinical effectiveness research. That kind of research compares different treatments to find out which ones work best for different people.. The goal was to give families the knowledge and tools they need to participate meaningfully in research and make better decisions for their healthcare.

Key activities included:

• Developing easy-to-understand training based on PCORI research fundamentals training modules.
• Hosting five in-person events and four online sessions (including one in Spanish) where participants learned specific information about clinical trial participation, shared experiences, and asked questions.
• Offering pre- and post-session assessments and surveys to measure learning and gather feedback.
• Providing participation and travel stipends to reduce financial barriers to involvement.
• Establishing a ten-member Patient Advisory Board to bring the patient voice directly into research planning.
• Creating a survey to find out the top priorities and needs of patients and families.

Over 200 participants from various backgrounds - patients, caregivers, doctors, students, and researchers - took part. The in-person gatherings were especially powerful, offering rare opportunities for families to connect with others facing the same challenges. Participants appreciated the chance to share their experiences, build support networks, and feel truly heard.

The project also used engagement tools like Zoom, Slido, and Qualtrics to make sessions interactive and accessible. These tools made it easier for people to give feedback, ask anonymous questions, and stay engaged, even if they were uncomfortable speaking up publicly.

The project has already made a big difference: it improved research knowledge in the community, prepared families for upcoming clinical trials, and laid the groundwork for more patient-focused studies. It also built lasting resources and structures - like the Patient Advisory Board and training materials - that will continue to support the community and guide researchers well into the future.