ASXL Behavioral Phenotyping Study (ALPS)
The ASXL Behavioral Phenotyping Study (ALPS) is a research study of neurodevelopmental functioning in individuals with ASXL-related disorders. Neurodevelopmental functioning includes aspects of cognition like thinking, reasoning and problem solving, as well as communication, visual processing, attention, motor functioning, social-emotional skills, adaptive skills and behavioral regulation.
What we hope to learn from this study
The goal of this study is to better describe the cognitive, social, and behavioral profile of individuals with ASXL-related disorders and to learn what tests and assessments are best to use in doing so. The findings of this study will be used to support future research needed for improving clinical care and preparing for clinical trials for individuals with ASXL-related disorders.
Study participation
This study has an in-person component and a virtual component. The in-person component of the study was conducted at the 2024 ASXL Family Conference. The online portion of this study will launch in summer 2025, and will be open to participants worldwide in English and in Spanish.
How to enroll in this study
ALPS is a collaborative research study led by Dr. Natasha Ludwig at Kennedy Krieger Institute and operated through the ASXL-Related Disorders Natural History Study (formerly called the ASXL Patient Registry) in partnership with Dr. Bianca Russell at UCLA. Enrollment in the ASXL-Related Disorders Natural History Study is required to participate in ALPS.
- To enroll in the ASXL-Related Disorders Natural History Study, complete the online enrollment form to start the enrollment process. Additional information about the study, eligibility criteria, and the enrollment process is available on the ASXL-Related Disorders Natural History Study page.
- If you or your child is already enrolled in the ASXL-Related Disorders Natural History Study, you will receive an email notification from the research team when/if you are eligible to participate in aspects of this study. If you have already participated in some or all aspects of ALPS, you will receive an email when you may be eligible to participate in additional components of that study.
- If you are unsure of your enrollment status, please email the study team at asxl-chromatin-registry@mednet.ucla.edu.