Background: SATB2-associated syndrome (SAS) is a newly recognized rare disease characterized by significant neurodevelopmental delay as well as compromise of other systems. More information can be found at www.satb2gene.com. Persons born with SAS require healthcare delivery that includes prompt clinical detection and strong, supportive partnerships between providers and healthcare systems, as well as the community of patients living with this rare genetic condition and their families. The project team is uniquely positioned to build a patient-stakeholder partnership that will allow the team to design a patient-centered SAS research agenda from the outset for this newly recognized disorder.
Proposed Solution to the Problem: The families and providers of the SAS community are coming together in this application to request support for developing an SAS Alliance of skilled patient and stakeholder partners for developing a patient-centered SAS research agenda that will help inform best practices for caring for this patient population over their lifetimes.
Objectives: The objectives of the proposed activities are: (1) to build an alliance of patient and stakeholder partners; (2) to expand engagement and empower patient and stakeholder partners to actively participate in the design and conduct of patient-centered research; (3) to review existing PCOR/CER in rare genetic disorders to help inform the development and design of research for SAS; and (4) to develop a patient-centered research agenda for SAS.
Activities:The project team proposes two conferences, the First International SATB2-associated Syndrome Conference for children and their families, clinicians, and researchers (Little Rock, Arkansas; August 2-4, 2017), and a conference in 2018. Additionally, the team proposes three engagement activities to occur between conferences: (1) the development and dissemination of engagement materials, (2) PCOR/CER trainings for patient and stakeholder partners, and (3) a review of PCOR/CER in rare genetic disorders.
Outcomes and Outputs (projected):From these activities, the project team anticipates the development of a robust research agenda with a clear plan of action for how to begin addressing priority research questions. The team will create a PCOR/CER Patient and Stakeholder Partners Engagement Toolkit for Rare Genetic Disorders, which will serve as a resource for other rare genetic disorders. A consensus statement based on the two conferences and two years of engaging patient and stakeholder partners will be developed and include priorities for future patient-centered SAS research.
Patient and Stakeholder Engagement Plan: Both patient and stakeholder partners will be involved in all aspects of the proposed project activities. All members of the SAS Alliance will receive training on PCOR/CER, which will empower them to be actively involved in the development of the SAS research agenda and subsequent conduct of patient-centered research on SAS.
Project Collaborators: Arkansas Children’s Research Institute, Arkansas Children’s Hospital, University of Rhode Island, University of Arkansas for Medical Sciences, and the SAS Family Support Group.