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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

1 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-05-19

Study Completion Date

2027-05-31

Brief Summary

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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

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Detailed Description

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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

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Bainbridge-Ropers Syndrome

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Open Label

Group Type EXPERIMENTAL

nL-ASXL3-001

Intervention Type DRUG

Personalized antisense oligonucleotide

Interventions

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nL-ASXL3-001

Personalized antisense oligonucleotide

Intervention Type DRUG

Eligibility Criteria

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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