NCT07197268

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

• Status: Active Not Recruiting
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 1 (actual)
• Sponsor: n-Lorem Foundation · Academic / Other
• Sex: Male
• Age: 4 Years – 4 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed description

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

Conditions

• Bainbridge-Ropers Syndrome

Interventions

Type	Name	Description
DRUG	nL-ASXL3-001	Personalized antisense oligonucleotide

Timeline

• Start date: 2025-05-19
• Primary completion: 2027-05-01
• Completion: 2027-05-01
• First posted: 2025-09-29
• Last updated: 2025-09-29

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study