The primary objective of this study is to measure ubiquitin-protein ligase E3A (UBE3A) protein levels in cerebrospinal fluid (CSF) and to evaluate its utility as a biomarker in support of the development of therapies for AS.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
20
Administered as specified in the treatment arm.
Administered as specified in the treatment arm.
Rady Childrens Hospital
San Diego, California, United States
Rush Medical College
Chicago, Illinois, United States
Boston Children's Hospital
Boston, Massachusetts, United States
University of North Carolina Hospital
Carolina, North Carolina, United States
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
Time frame: Baseline up to Day 33
UBE3A Protein Levels in Each Genotype Group
Time frame: Baseline up to Day 33
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Vanderbilt University Medical Center
Nashville, Tennessee, United States