Background: Rare disease research is challenging. There are small sample sizes, a lack of understanding of the disease natural history and limited available treatments. These challenges are true for SLC13A5 epilepsy, a rare disease that significantly impacts patients as well as the entire family. When this disorder was identified in 2014, there was almost nothing known about the disease. With an ongoing natural history study and the development of SLC13A5 research tools, the research landscape has changed. The SLC13A5 epilepsy community needs an updated research agenda that reflects the needs of patients.
Motivation: The SLC13A5 patient community has specifically expressed interest in continuing to have open communication with multiple stakeholders, including researchers and clinicians. By bringing together multiple stakeholders on a regular basis to learn about patient-centered outcomes research/comparative clinical effectiveness research (PCOR/CER) and develop an updated research agenda, the project team will be able to continue to build strong relationships—and trust—amongst stakeholders, with a specific and tangible outcome: a research agenda focused on the needs of the patient community.
Goal: The main goal is to build capacity to engage in PCOR/CER. The project team will accomplish this by establishing an updated research agenda for the rare disease SLC13A5 epilepsy. The research agenda will be driven by the patient voice and incorporate insights from researchers, clinicians and industry members.
Objectives: This capacity building project will prepare TESS Research Foundation to drive PCOR/CER in the SLC13A5 epilepsy community and serve as a model for the rare disease community.
Project objectives are to:
- Develop a Project Advisory Committee.
- Build strong relationships and trust amongst all stakeholders to facilitate open communication.
- Train the community in PCOR/CER.
- Develop an organizational roadmap that will facilitate PCOR/CER in the SLC13A5 epilepsy community.
Activities: A Project Advisory Committee (PAC) that includes patients, researchers, clinicians and industry members will be established. The PAC will regularly meet virtually to develop a research agenda and roadmap. The broader SLC13A5 epilepsy community will also be brought together in a hybrid event to learn about PCOR/CER, develop an updated research agenda driven by the patient voice and build community.
- Surveys that provide stakeholder feedback regarding the research agenda.
- A SLC13A5 epilepsy PCOR/CER research agenda.
- TESS Research Foundation’s organization roadmap.
- Meeting summary of all project meetings, including eight one-hour virtual meetings and a full-day hybrid meeting.
Projected Outcomes and Outputs:
Short-term outcomes during the project period include:
- All stakeholders have a clear understanding of PCOR/CER.
- A community is established where key opinion leaders and researchers working in SLC13A5 epilepsy have a clearer understanding of the day-to-day life of affected individuals. This will direct their work in creative ways.
- Patient partners drive a research agenda.
- A PCOR/CER agenda for SLC13A5 is clearly drafted and distributed among all stakeholders.
- An organization roadmap is created that will facilitate PCOR/CER in the SLC13A5 epilepsy community.
Medium-term outcomes (0-2 years post-project period) include:
- A renewed, open and trustworthy network in the SLC13A5 community continues to meet regularly.
- New collaborations are formed between TESS and five academic labs, one industry partner and five clinicians.
Long-term outcomes (3+ years post-project period) include:
- Five peer-reviewed publications that include patients, advocates and TESS as authors or listed in acknowledgements.
- Three projects that directly address the PCOR/CER established via this project.
Patient and Stakeholder Engagement Plan: SLC13A5 epilepsy patients and caregivers will be partners in this project. Patients will participate in virtual meetings and the hybrid event. This project will include a Project Advisory Committee with representatives from each stakeholder group (patients, researchers, clinicians and industry partners) who will participate in eight virtual one-hour meetings, as well as the hybrid event.
Project Collaborators: This project is led by TESS Research Foundation, who is partnering with patients to drive this project. TESS will also partner with SLC13A5 epilepsy researchers, clinicians and industry partners. Brown University will host the hybrid event in Providence, Rhode Island.