ARRE Foundation continues investment in foundational clinical research for ASXL-related disorders
The ASXL Rare Research Endowment (ARRE) Foundation has reaffirmed its commitment to clinical research infrastructure for ASXL-related disorders through continued funding of the ASXL-Related Disorders Natural History Study and Biobank at the University of California, Los Angeles (UCLA), led by Bianca Russell, MD.
The Foundation is currently in the second year of a three-year, $180,000 funding commitment supporting the study, which serves as the primary clinical research resource for Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3).
The study combines two components: a longitudinal natural history study that collects clinical and developmental information over time, and a biobank that stores biological samples, including blood and skin samples, from participating individuals.
Together, these resources create an increasingly valuable research dataset that links biological samples directly to detailed clinical information. This type of integrated infrastructure is considered essential for advancing understanding of rare neurodevelopmental disorders and supporting future therapeutic development.
The ARRE Foundation also continues to support the ASXL Behavioral Phenotyping Study (ALPS), led by Natasha Ludwig, PhD, of Kennedy Krieger Institute and Johns Hopkins University. ALPS is a complementary research study focused on understanding the neurodevelopmental profile of individuals with ASXL-related disorders, including cognition, communication, attention, motor skills, social-emotional functioning, adaptive skills, and behavioral regulation. As a sub-study of the ASXL-Related Disorders Natural History Study, ALPS helps researchers identify and validate standardized assessments that can be used to better characterize the disorders and measure meaningful changes over time.
Natural history studies play a foundational role in rare disease research because they help clinicians, researchers, and industry partners better understand how conditions present and change over time. For ultra-rare disorders such as ASXL-related disorders, these datasets are often among the most important tools available for improving clinical care, identifying meaningful outcome measures, supporting trial readiness, and informing future drug development strategies.
“The ASXL-Related Disorders Natural History Study and Biobank, together with the ASXL Behavioral Phenotyping Study, represent some of the most important long-term research investments we can make as a Foundation,” said Dr. Karen Ho, Chief Scientific Officer of the ARRE Foundation. “Without a strong understanding of how these disorders affect individuals over time, it becomes extraordinarily difficult to design effective clinical trials or evaluate whether potential therapies are making a meaningful difference. This study is helping build the scientific and clinical framework that future therapeutic progress will depend on.”
The ARRE Foundation noted that sustained funding commitments are especially important in the current research climate, where many academic investigators and rare disease programs are facing increasing uncertainty around traditional funding sources.
“Foundational research infrastructure requires long-term investment and continuity,” said Amanda Johnson, Executive Director of the ARRE Foundation. “This study is not a short-term project. It is a growing resource for the entire ASXL research community and one that will continue to increase in value as more families participate and more longitudinal data is collected over time.”
The ASXL-Related Disorders Natural History Study and Biobank, together with ALPS, support broader research efforts across the field, including future studies focused on clinical management, biomarkers, neurodevelopmental outcomes, outcome measure development, and treatment readiness.
Learn more about the ASXL-Related Disorders Natural History Study and Biobank.