A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
Clinical or molecular diagnosis of an ASXL related disorder
No clinical or molecular diagnosis of an ASXL related disorder
All patients with molecularly proven or suspected ASXL related disorders
Cohort
Prospective
Not listed
Natural history, treatment and management strategies of ASXL-related disorders
Use participant surveys including the GRDR CDE standard questions to collect data on disease history and management. Attain primary medical records with goal of publications to enhance treatment, management and understanding of the natural history of ASXL gene disorders.
Click on the lead sponsor to view all of their trials.
University of California, Los Angeles
Lead sponsor
Boston Children's Hospital
Collaborator
Children's Hospital Medical Center, Cincinnati
Collaborator
Duke University
Collaborator
