ARRE Foundation Awarded PCORI Funding to Engage Families in Research
Portland, Maine: The Patient-Centered Outcomes Research Institute (PCORI) has selected the ASXL Rare Research Endowment (ARRE) Foundation for a $99,982 Eugene Washington PCORI Engagement Stakeholder Convening Award for a project titled, “Defining and Prioritizing Research Questions and Outcome Measures for ASXL-Related Disorders.” The project will engage caregivers, clinicians, and researchers in further defining the lived experience of families in the domains of neurodevelopment (cognition and communication), behavioral dysregulation, and gastrointestinal-related concerns. The project, which will culminate at the 2024 ASXL Family Conference in Baltimore, Md., will also identify and prioritize future research questions and endpoints that are most important to families in each of these domains.
This project, which launches January 1, 2024, will be co-led by Amanda Johnson, executive director of the ARRE Foundation, and Natasha Ludwig, PhD, a clinical neuropsychologist at Kennedy Krieger Institute and assistant professor of psychiatry and behavioral sciences at Johns Hopkins University School of Medicine. The project’s multi-stakeholder planning committee also includes expert clinicians and six parent caregivers of individuals with ASXL-related disorders. Kennedy Krieger Institute will also serve as the hosting partner of the ASXL Family Conference in July 2024.
The project seeks to build family engagement in research by providing education about patient-centered outcomes research (PCOR) and providing an opportunity to directly contribute their lived experience to the formation and prioritization of research questions. Specific project objectives include to:
Increase family awareness of the value of their input in patient-centered outcomes research (PCOR)
Develop stakeholder-generated and -prioritized research questions
Gain a better understanding of lived family experiences within the three symptom priority areas
Foster new collaborations between stakeholders to address unmet needs using learnings from this convening
The project builds on the ARRE Foundation’s previous work to identify research priorities that are most significant to families living with ASXL-related disorders, which include gastrointestinal-related concerns, neurodevelopment (cognition and communication), and behavioral dysregulation. It will address an urgent unmet need to identify PCOR/comparative effectiveness research (CER) questions related to outcome measurement that are meaningful to families and clinically relevant to healthcare providers so that the ARRE Foundation can direct research resources toward activities with the greatest impact on patient and family quality of life.
“Caregivers of individuals with ASXL-related disorders are experts in how these conditions impact child functioning a quality of life. As such, they are critical partners in informing innovative research that will contribute to novel patient-focused treatments,” said co-project lead Dr. Natasha Ludwig, whose research focuses on measurement of cognitive and functional skills in individuals with genetic conditions associated with neurodevelopmental disorder. “This collaboration is a critical next step in understanding outcomes that are most meaningful to patients and families and how these outcomes should be measured in this patient group."
“The ARRE Foundation was created to drive research that matters most to families,” said Laura Badmaev, founder and chair of the ARRE Foundation and the parent of a child with ASXL1-related disorder (Bohring-Opitz Syndrome). “This is an exciting project that places families directly at the center of defining research questions and tools that will fuel progress in ASXL research for years to come.”
About ASXL-related disorders: ASXL-related disorders are rare, multi-system neurodevelopmental disorders caused by pathogenic variants in the ASXL1 (Bohring-Opitz Syndrome), ASXL2 (Shashi-Pena Syndrome), and ASXL3 (Bainbridge-Ropers Syndrome) genes with a high burden on patient and caregiver quality of life. An estimated 500 individuals are diagnosed globally with many more living undiagnosed. Common features of these disorders on a wide spectrum of severity include developmental delay, intellectual disability, feeding difficulties, severe constipation, orthopedic complications, seizures, sleep disturbances, and challenging behaviors. While research interest in ASXL-related disorders is growing rapidly, there remains little understanding of the natural history or mechanisms of disease and there are no known treatments or standards of care. For more information, please visit www.arrefoundation.org.
About the ARRE Foundation: The ARRE Foundation was established in 2018 as a parent-led patient advocacy organization dedicated improving the quality of life for families living with ASXL-related disorders through research and education. For more information, please visit www.arrefoundation.org.
About Kennedy Krieger Institute
Kennedy Krieger Institute, an internationally known, non-profit organization located in the greater Baltimore/Washington, D.C. region, transforms the lives of more than 27,000 individuals a year through inpatient and outpatient medical, behavioral health and wellness therapies, home and community services, school-based programs, training and education for professionals and advocacy. Kennedy Krieger provides a wide range of services for children, adolescents and adults with diseases, disorders or injuries that impact the nervous system, ranging from mild to severe. The Institute is home to a team of investigators who contribute to the understanding of how disorders develop, while at the same time pioneer new interventions and methods of early diagnosis, prevention and treatment. Visit KennedyKrieger.org for more information about Kennedy Krieger.
