Personalized Antisense Oligonucleotide for A Single Participant With UBTF Gene Mutation

An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA) Caused by UBTF Gene Mutation

Status

Active, not recruiting

Phases

Phase 1Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT07588581

Enrollment

Registered

2026-05-15

Start date

2025-02-05

Completion date

2027-02-01

Last updated

2026-05-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)

Brief summary

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense gain-of-function mutation in UBTF

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 CONDBA due to a pathogenic heterozygous missense gain-of-function mutation in UBTF

Interventions

DRUGnL-UBTF-001

Personalized antisense oligonucleotide

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

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 CONDBA due to UBTF gene mutation

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame	Description
Gross Motor Function	Baseline to 24-months	Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Brief Ataxia Rating Scale (BARS)
Ataxia	Baseline to 24-months	Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Brief Ataxia Rating Scale (BARS)
Quality of Life	Baseline to 24-months	Change in quality of life from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Pediatric Quality of Life Inventory (PedsQL) Family Impact Module

Secondary

Measure	Time frame	Description
Feeding Skills	Baseline to 24-months	Change in feeding skills from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by feeding and swallow assessments
Safety and Tolerability	Baseline to 24-months	Incidence and severity of treatment-emergent adverse events (AEs) post nL-UBTF-001 administration

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: May 16, 2026