Personalized Antisense Oligonucleotide Therapy for A Single Participant With ASXL3 Gene Mutation

An Open-Label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Bainbridge-Ropers Syndrome Due to ASXL3 Gene Variant

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Bainbridge-Ropers Syndrome (BRPS) due to a pathogenic, de novo nonsense variant in ASXL3

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

Inclusion Criteria:

• 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

Exclusion Criteria:

• Participant has any condition that, in the opinion of the Site Investigator, would ultimately prevent the completion of stud procedures