Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
n-Lorem Foundation
With
University of North Carolina, Chapel Hill
This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single participant with BRPS due to a pathogenic, de novo nonsense variant in ASXL3
Age
4–4
Sex
MALE
Healthy volunteers
Not accepted
You may be eligible if
Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s)
Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records
Genetically confirmed ASXL3 genetic variant
You may not be if
Participant has any condition that, in the opinion of the Site Investigator, would ultimately prevent the completion of stud procedures
