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| Name | Class |
|---|---|
| Dell Children's Medical Center of Central Texas | 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-ATN1-001 | 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) (changes in frequency of ictal and interictal discharges, evoked potentials, and changes in EEG background) | Baseline to 24 months |
| Seizures | Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (changes in number and length of seizures) | 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) | Baseline to 24 months |
| Quality of Life and Caregiver Burden |
| Measure | Description | Time Frame |
|---|---|---|
| Developmental Skills | Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Developmental Profile 4 (DP-4) (physical, adaptive behavior, social-emotional, cognitive, and communication scores) | Baseline to 24 months |
| Developmental Skills |
Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Dell Children's | Austin | Texas | 78723 | 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 and caregiver burden from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Caregiver Global Impression of Change Questionnaire (CaGL-C) |
| Baseline to 24 months |
| Health Status | Change in comorbities 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) | Baseline to 24 months |
| Dysphagia | Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by Modified Barium Swallow Study (MBSS) | Baseline to 24 months |
| Dysphagia | Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by adverse events of aspiration PNAs | Baseline to 24 months |
| Incidence and Severity 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 |
Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Bayley Scales of Infant Development 4 (BSID-4) (cognition, communication, motor, and adaptive behavior scores) |
| Baseline to 24 months |
| Developmental Skills | Change in developmental skills from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Observer Reported Communication Ability (ORCA) | Baseline to 24 months |
| Ataxia | Change in ataxia from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Scale for Assessment and Rating of Ataxia (SARA) | Baseline to 24 months |
| Brain Changes | Change in brain MRIs from baseline to 12- and 24- months post nL-ATN1-002 administration as measured by ventricular size on brain MRI | Baseline to 24 months |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000073376 | Epileptic Syndromes |