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| Name | Class |
|---|---|
| Hawaii Pacific Neuroscience | UNKNOWN |
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This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
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 DRPLA due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Open Label | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| nL-ATN1-002 | Drug | Personalized antisense oligonucleotide |
|
| Measure | Description | Time Frame |
|---|---|---|
| Seizures | Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by routine electroencephalography (EEG) | Baseline to 24 months |
| Seizures | Change in seizure frequency and seizure medication use from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (reported with seizure dates and use of seizure medication). | Baseline to 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Quality of Life and Caregiver Burden | Change in quality of life and caregiver burden from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) | 24 months |
| Health Status |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hawaii Pacific Neuroscience | Honolulu | Hawaii | 96817 | United States |
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| ID | Term |
|---|---|
| D020191 | Myoclonic Epilepsies, Progressive |
| ID | Term |
|---|---|
| D004831 | Epilepsies, Myoclonic |
| D004829 | Epilepsy, Generalized |
| D004827 | Epilepsy |
| D001927 | Brain Diseases |
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Change in health issues from baseline to 6-, 12-, 18-, and 24-months post nL-ARN1-002 administration as measured by the Caregiver Priorities - Comorbidities and Health Evaluation Checklist (CPCHECKlist) |
| 24 months |
| Incidence and Severity of Treatment Emergent Adverse Events [Safety and Tolerability] | 24 months |
| Incidence of Treatment-Emergent Abnormalities in Physical and Neurological Exams [Safety and Tolerability] | 24 months |
| Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability] | 24 months |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000073376 | Epileptic Syndromes |