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| Name | Class |
|---|---|
| Columbia University | OTHER |
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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 |
|---|---|---|
| Ataxia | Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Scale for Assessment and Rating of Ataxia (SARA). | Baseline to 24 months |
| Ataxia | Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by wrist/ankle accelerometers (peak velocity, peak acceleration, movement entropy). | Baseline to 24 months |
| Ataxia | Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by home gait video assessment (reviewed by blinded rater using gait and stance rating criteria from the SARA). | Baseline to 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Seizures | Change in seizure frequency and length of seizures, as well as seizure medication use, from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by caregiver seizure diary tracking. | Baseline to 24 months |
| Quality of Life |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Columbia University | New York | New York | 10027 | 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 quality of life from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Activities of Daily Living questionnaire (ADL). |
| Baseline to 24 months |
| Quality of Life | Change in quality of life from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by the Caregiver Global Impression of Change questionnaire (CGI-C). | Baseline to 24 months |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability] | Baseline to 24 months |
| Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and tolerability] | Baseline to 24 months |
| Incidence of Treatment-Emergent abnormalities in safety labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and tolerability] | Baseline to 24 months |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000073376 | Epileptic Syndromes |