Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) - Sex chromosome aneuploidy (SCA) conditions are a family of genetic disorders resulting from an atypical number of X or Y chromosomes. The enduring outcomes of this project will be to unite SCA communities around clinical priorities for future translational studies and to facilitate community evaluation of available outcome measurement approaches. We will employ a comprehensive set of iterative community-based participatory research (CBPR) techniques to deeply engage a large group of SCA community stakeholder partners, including the many youths with SCA who have neurocognitive disorders such as autism spectrum disorder, attention deficit hyperactivity disorder, or learning disabilities. We will focus on adolescents and young adults between 13-25 years old, a period that captures the full transition and launch to adulthood period in SCA. Our CBPR approach will identify research priorities that are shared across SCA groups as well as priorities that are specific to individual SCA groups and patient vs. parent/provider stakeholders. Aim 1 will engage the SCA stakeholder team using a modified Delphi process to identify critical consensus priorities, approximately 2-4 cross-cutting priorities endorsed by most or all stakeholders (youth, parent, provider). In Aim 1, we may also identify critical subgroup priorities. The overarching goal is to identify patient-centered priorities for clinical trials outcome research. In Aim 2, available candidate outcome measures of critical stakeholder priorities are identified using a multi-input approach. Candidate measures will be identified using three approaches: (1) expert clinician providers from Aim 1 will complete brief interviews with study staff to discuss candidate measures of the key priority outcomes based on measures they use and endorse for youths with SCA or measures that know of that could be used; (2) rapid reviews will be conducted for each critical priority identified by the stakeholders, with the focused goal of identifying potential measures; and (3) the full investigator team across the NASCARR network will be asked to provide additional candidate measures for stakeholder priorities. In Aim 3, stakeholders will review available measures and propose top candidate measures for each of the Aim 1 identified stakeholder outcome measurement priorities: (1) measures that meet community/expert review standards for measuring a key outcome; (2) measures that—with revision—could meet community/expert review standards; and (3) key gaps in measurement (i.e., priority outcomes for which there is no satisfactory measure). Along with codifying measures according to the above schema, the richness of the stakeholder qualitative reactions to the measures will inform future measure revision and measure development. The short-term goal of this work is to understand stakeholder priorities around health- and quality of life-relevant outcomes that can be measured in clinical trials. The long-term goal is to develop a stakeholder-driven framework for outcomes measurement to facilitate SCA patient-centered clinical trials. Building on the connection and trust established in Project 2, the outcomes that emerge from this process will generate several types of impactful follow up studies to advance SCA clinical trial readiness.
