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| Name | Class |
|---|---|
| University of North Carolina, Chapel Hill | OTHER |
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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
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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Open Label | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nL-ASXL3-001 | Drug | Personalized antisense oligonucleotide |
|
| Measure | Description | Time Frame |
|---|---|---|
| Safety and Tolerability | Incidence and severity of treatment-emergent adverse events (AEs) from baseline to 12- and 24-months post nL-ASXL3-001 administration | Baseline to 24 months |
| Safety and Tolerability | Changes from baseline to 12- and 24-months post nL-ASXL3-001 administration in physical examination (changes in appearance, skin, neck, ears, nose, throat, heart/lungs, abdomen, lymph nodes, and extremities compared to baseline) | Baseline to 24 months |
| Incidence of Treatment Emergent Abnormalities in Neurological Exam [Safety and Tolerability] | Changes from baseline to 12- and 24-months post nL-ASXL3-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline) | Baseline to 24 months |
| Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, urinalysis) [Safety and Tolerability] | Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis) | Baseline to 24 months |
| Motor Skills | Change in gross motor function from baseline to 12- and 24-months post nL-ASLX3-001 administration as measured by the Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) score. | Baseline to 24 months |
| Motor Skills | Change in gross motor function from baseline to 12- and 24-months post nL-ASXL-001 administration as measured by the Gross Motor Function Measure (GMFM 88/66) |
| Measure | Description | Time Frame |
|---|---|---|
| Feeding Tolerance and Growth | Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by body mass index (BMI). | Baseline to 24 months |
| Feeding tolerance and growth |
| Measure | Description | Time Frame |
|---|---|---|
| Swallow Function | Change in swallowing function from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by video fluoroscopic swallow study (VFSS) | Baseline to 24 months |
| Swallow Function |
Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of North Carolina Chapel Hill | Chapel Hill | North Carolina | 27599 | United States |
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| Baseline to 24 months |
Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by % oral feeding vs G tube reported by parent feeding diary
| Baseline to 24 months |
| Feeding tolerance and growth | Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Functional Oral Intake Score (FOIS) | Baseline to 24 months |
| Feeding Tolerance and Growth | Change in feeding tolerance and growth from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Bristol Stool Scale | Baseline to 24 months |
| Cognition, Communication, and Behavior | Change in communication from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Vineland Adaptive Behavior Scales - Third Edition (Vineland-3): growth scale values (GSVs) for Expressive Language and Receptive Language subdomains | Baseline to 24 months |
| Cognition, Communication, and Behavior | Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4): Expressive and Receptive Language Domains and Receptive Language Domains and Cognition Domain | Baseline to 24 months |
| Cognition, Communication, and Behavior | Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Observer-Related Communication Ability (ORCA) overall T score | Baseline to 24 months |
| Cognition, Communication, and Behavior | Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Aberrant Behavior Checklist (ABC) | Baseline to 24 months |
| Cognition, Communication, and Behavior | Change in cognition, communication, and behavior from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by Repetitive Behavior Scale | Baseline to 24 months |
| Quality of Life | Change in quality of life from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by the Quality-of-Life Inventory - Disability (QI-Disability) | Baseline to 24 months |
Change in swallowing function from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by modified barium swallow study (MBSS)
| Baseline to 24 months |
| Vision | Change in vision from baseline to 12- and 24-months post nL-ASXL3-001 administration as measured by cortical vision impairment assessment | Baseline to 24 months |
| Sleep | Change in Sleep from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by parent-reported sleep diary | Baseline to 24 months |
| Sleep | Change in Sleep from baseline to 6-, 12-, 18-, and 24-months post nL-ASXL3-001 administration as measured by Sleep Disturbances Scale for Children (SDSC) | Baseline to 24 months |