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| Name | Class |
|---|---|
| The Hospital for Sick Children | OTHER |
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This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug intended for a single participant with Schuurs-Hoeijmakers syndrome (SHMS) due to a pathogenic, de novo, heterozygous missense gain-of-function mutation in PACS1
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 SHMS due to a pathogenic, de novo, heterozygous missense gain-of-function mutation in PACS1
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Open Label | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nL-PACS1-001 | Drug | Personalized antisense oligonucleotide |
|
| Measure | Description | Time Frame |
|---|---|---|
| Communication Ability | Change in communication ability from baseline to 6-, 12-, 18-, and 24-months post nL-PACS1-001 administration as measured by Observer-Rated Communication Ability (ORCA) overall T-score | Baseline to 24 months |
| Communication Ability | Change in communication ability from baseline to 12- and 24-months post nL-PACS1-001 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 |
| Communication Ability | Change in communication ability from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4) Expressive and Receptive Language domains | Baseline to 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Fine Motor Skills | Change in communication ability from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) Fine Motor Subdomain Growth Scale Values (GSVs) | Baseline to 24 months |
| Fine Motor Skills |
| Measure | Description | Time Frame |
|---|---|---|
| Cognition and Behavior and Socialization | Change in cognition, behavior, and socialization from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Repetitive Behavior Scale - Revised (RBS-R) | Baseline to 24 months |
| Cognition and Behavior and Socialization |
Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Hospital for Sick Children (SickKids) | Toronto | Ontario | M5G 1X8 | Canada |
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Change in fine motor skills from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4) Fine motor domain |
| Baseline to 24 months |
| Fine Motor Skills | Change in fine motor skills from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Hammersmith Infant Neurological Examination (HINE) overall score | Baseline to 24 months |
| Fine Motor Skills | Change in fine motor skills every 28 days for 24-months post nL-PACS1-001 administration as measured by Early Motor Questionnaire (EMQ) | Baseline to 24 months |
| Safety and Tolerability | Incidence and severity of treatment-emergent adverse events (AEs) post nL-GPACS1-001 administration | Baseline to 24 months |
| Incidence of Treatment-Emergent Abnormalities in Physical Exam [Safety and Tolerability] | Changes post nL-PACS1-001 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 post nL-PACS1-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline as assessed by treating physician) | Baseline to 24 months |
| Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and 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 |
Change in cognition, behavior, and socialization from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Vineland Adaptive Behavior Scales - Third Edition (Vineland-3) Fine Motor Subdomain Growth Scale Values (GSVs), Daily Living and Socialization Domain GSVs for Community, Domestic and Personal Subdomains and Coping Skills, Play and Leisure and Interpersonal Relationships Subdomains |
| Baseline to 24 months |
| Cognition and Behavior and Socialization | Change in cognition, behavior, and socialization from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4) Cognition Domain | Baseline to 24 months |
| Seizures | Change in frequency of clinical seizures from baseline to 6-, 12-, 18-, and 24-months post nL-PACS1-001 administration as measured by spike counts during sleep per unit time during 24-hour overnight clinical Electroencephalography (EEG) | Baseline to 24 months |
| Seizures | Change in frequency of clinical seizures from baseline to 6-, 12-, 18-, and 24-months post nL-PACS1-001 administration as measured by seizure diary | Baseline to 24 months |
| Sleep and Drooling | Change in sleep and drooling every 28 days from baseline to 24-months post nL-PACS1-001 administration as measured by Measure Your Own Medical Profile-2 (MYOMP-2) targets of drooling and sleep | Baseline to 24 months |
| Sleep and Drooling | Change in sleep and drooling from baseline to 12- and 24-months post nL-PACS1-001 administration as measured by Brief Infant Sleep Questionnaire (BISQ) | Baseline to 24 months |
| Cerebrospinal Fluid (CSF) Composition | Change in composition of CSF from baseline to 6-, 12-, 18-, and 24- months post nL-PACS1-001 administration as assessed by cerebrospinal fluid analysis | Baseline to 24 months |