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| Name | Class |
|---|---|
| Massachusetts General Hospital | OTHER |
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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Open Label | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nL-UBTF-001 | Drug | Personalized antisense oligonucleotide |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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) | 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 | 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) | 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) | 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 | 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) | Baseline to 24-months |
| Ataxia |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | Baseline to 24-months |
| Safety and Tolerability |
| Measure | Description | Time Frame |
|---|---|---|
| Brain Structure | Change in brain structure from baseline to 12- and 24-months post nL-UBTF-001 administration as captured by brain magnetic resonance imaging (MRI) | Baseline to 24-months |
| Brain Atrophy |
Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States |
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Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by wrist/ankle accelerometers
| 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 Gross Motor Function Measure-88 (GMFM-88) | 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) | 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 | 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 | Baseline to 24-months |
Incidence and severity of treatment-emergent adverse events (AEs) post nL-UBTF-001 administration
| 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)
| Baseline to 24-months |
| Myelination Patterns | Change in myelination patterns from baseline to 12- and 24-months post nL-UBTF-001 administration as captured by brain magnetic resonance imaging (MRI) | Baseline to 24-months |