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NCT Number: NCT07588581

Personalized Antisense Oligonucleotide for A Single Participant With UBTF Gene Mutation

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

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

nL-UBTF-001

Drug

Personalized antisense oligonucleotide

Primary outcomes

  1. Gross Motor Function

    Time frame: 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)

  2. Gross Motor Function

    Time frame: 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 wrist/ankle accelerometers

  3. Gross Motor Function

    Time frame: 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 Gross Motor Function Measure-88 (GMFM-88)

  4. Gross Motor Function

    Time frame: 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 Vineland Adaptive Behavior Scales - Third Edition (Vineland-3)

  5. Gross Motor Function

    Time frame: 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 home gait video assessments

  6. Ataxia

    Time frame: 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)

  7. Ataxia

    Time frame: Baseline to 24-months

    Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by wrist/ankle accelerometers

  8. Ataxia

    Time frame: Baseline to 24-months

    Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Gross Motor Function Measure-88 (GMFM-88)

  9. Ataxia

    Time frame: Baseline to 24-months

    Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Vineland Adaptive Behavior Scales - Version 3 (Vineland-3)

  10. Ataxia

    Time frame: Baseline to 24-months

    Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by home gait video assessment

  11. Quality of Life

    Time frame: 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 outcomes

  1. Feeding Skills

    Time frame: 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

  2. Safety and Tolerability

    Time frame: Baseline to 24-months

    Incidence and severity of treatment-emergent adverse events (AEs) post nL-UBTF-001 administration

Other outcomes

  1. Brain Structure

    Time frame: Baseline to 24-months

    Change in brain structure from baseline to 12- and 24-months post nL-UBTF-001 administration as captured by brain magnetic resonance imaging (MRI)

  2. Brain Atrophy

    Time frame: Baseline to 24-months

    Change in brain atrophy from baseline to 12- and 24-months post nL-UBTF-001 administration as captured by brain magnetic resonance imaging (MRI)

  3. Myelination Patterns

    Time frame: Baseline to 24-months

    Change in myelination patterns from baseline to 12- and 24-months post nL-UBTF-001 administration as captured by brain magnetic resonance imaging (MRI)

Sponsors and collaborators

Lead sponsor

n-Lorem Foundation

Other

Collaborators

  • Massachusetts General Hospital

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
May 15, 2026
Registry last updated
May 15, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.