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
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
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
1
Personalized antisense oligonucleotide
Massachusetts General Hospital
Boston, Massachusetts, United States
Gross Motor Function
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)
Time frame: Baseline to 24-months
Gross Motor Function
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
Time frame: Baseline to 24-months
Gross Motor Function
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)
Time frame: Baseline to 24-months
Gross Motor Function
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)
Time frame: Baseline to 24-months
Gross Motor Function
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
Time frame: Baseline to 24-months
Ataxia
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)
Time frame: Baseline to 24-months
Ataxia
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by wrist/ankle accelerometers
Time frame: Baseline to 24-months
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Ataxia
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)
Time frame: Baseline to 24-months
Ataxia
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)
Time frame: Baseline to 24-months
Ataxia
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by home gait video assessment
Time frame: Baseline to 24-months
Quality of Life
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
Time frame: Baseline to 24-months
Feeding Skills
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
Time frame: Baseline to 24-months
Safety and Tolerability
Incidence and severity of treatment-emergent adverse events (AEs) post nL-UBTF-001 administration
Time frame: Baseline to 24-months