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

n-Lorem Foundation

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Bainbridge-Ropers Syndrome

Treatments: Drug: nL-ASXL3-001

Study type: Interventional

Funder types: Other

Identifiers

NCT07197268

25-0542

Details and patient eligibility

About

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

Full 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

Enrollment: 1 patient

Sex: Male

Ages: 4 to 4 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

1 participants in 1 patient group

Open Label

Experimental group

Treatment:

Drug: nL-ASXL3-001