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| Name | Class |
|---|---|
| Elpida Therapeutics SPC | INDUSTRY |
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This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283. The dose level of 15 mg will be studied in all subjects.
A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients with Lafora Disease
A single cohort will be evaluated in the study:
N=10
• Initial dose of 15 mg ION283 intrathecal bolus (ITB) injection every 12 weeks.
The study consists of 2 periods:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ION283 Arm | Experimental | Open label evaluation of ION283. All subjects with Lafora disease enrolled in this study will receive ION283. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| ION283 | Genetic | Anti-sense Oligonucleotide therapy that includes intrathecal (IT) injections by lumbar puncture (LP) with dose level of 15 mg. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Safety of ION283 as assessed by the number of participants with Treatment related AEs | Safety of ION283 will be assessed by the number of participants with Treatment related Adverse Events (AEs) which will be listed according to the severity (mild, moderate, severe) as assessed by the Investigator. A dose limiting toxicity (DLT) is defined as any ≥ Grade 3 (severe, life-threatening, disabling, or fatal) AND related to the Study Drug. The occurrence of (i) DLTs in 2 patients following administration or (ii) a single serious adverse event (SAE) that is life threatening and related to Study Drug will result in termination of further dosing and the dose tested will be considered to be dose limiting. | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Efficacy of ION283 as measured by Lafora Disease Performance Scale | A change from baseline at 2 years in Lafora Disease performance Scale scores will be assessed. The Lafora Disease Performance Scale assesses disease severity across 6 domains (seizures, myoclonus, ambulation, cognition, speech, function/activity of daily living). For each domain, a score between 3 (best performance) and 0 (worst performance) is assigned. The scores of each domain are added up to a total score. |
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Inclusion Criteria:
General Inclusion Criteria
Target Inclusion Criteria
Exclusion Criteria
for patients < 13 years old, BP ≥ 95th percentile + 12 mmHg, or ≥ 140/90 mmHg, whichever is lower for patients ≥ 13 years old, BP ≥ 140/90 mmHg
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Kristy Riddle, RN, BSN | Contact | 214-456-9501 | LDRecruiting@utsouthwestern.edu | |
| Ben Eckert, BA | Contact | LDRecruiting@utsouthwestern.edu |
| Name | Affiliation | Role |
|---|---|---|
| Berge Minassian, MD | University of Texas Southwestern Medical Center | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Childrens Health | Recruiting | Dallas | Texas | 75235 | United States |
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| ID | Term |
|---|---|
| D020192 | Lafora Disease |
| ID | Term |
|---|---|
| D020191 | Myoclonic Epilepsies, Progressive |
| D004831 | Epilepsies, Myoclonic |
| D004829 | Epilepsy, Generalized |
| D004827 | Epilepsy |
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| Baseline, 2 years |
| Efficacy of ION283 as measured by Pediatric Evaluation of Disability Inventory Scale | A change from baseline at 2 years in Pediatric Evaluation of Disability Inventory (PEDI) Scale scores will be assessed. The PEDI measures abilities in three functional domains: daily activities, mobility and social/cognitive. The PEDI's responsibility domain measures the extent to which the caregiver or child takes responsibility for managing complex, multi-step life tasks. Possible scores range from 0-100 where higher scores indicate better outcome. | Baseline, 2 years |
| Efficacy of ION283 as measured by Parent Global Impression of Change Scale | A change from baseline at 2 years in Parent Global Impression of Change (PGI) Scale scores will be assessed. The PGI scale is a single, self-administered questionnaire reflects a patient's belief about the efficacy of treatment (i.e., how their condition has changed since a certain point in time after treatment). Possible scores range from 0-5 where higher scores indicate better outcome. | Baseline, 2 years |
| Efficacy of ION283 as measured by Clinical Global Impression of Change Scale | A change from baseline at 2 years in Clinical Global Impression of Change (CGI) Scale scores will be assessed. The CGI scale is a seven-point scale that clinicians use to assess how much a patient's illness has improved or worsened since the beginning of treatment. Possible scores range from 1-7 where lower scores indicate better outcome. | Baseline, 2 years |
| Efficacy of ION283 as measured by Quality of Life in Childhood Epilepsy questionnaire | A change from baseline at 2 years in score scales of the Quality of Life in Childhood Epilepsy (QOLCE-55) questionnaires will be assessed. Possible scores range from 0-100 where higher scores reflect higher quality of life. QOLCE-55 is a parent proxy QoL questionnaire for children with epilepsy. It will be used throughout the study for patients who are 5 to 10 years old at Screening. Subject who progress to the next age category over the course of the study will continue to be evaluated according to the initial testing instrument. | Baseline, 2 years |
| Efficacy of ION283 as measured by Quality of Life in Epilepsy for Adolescents questionnaire | A change from baseline at 2 years in score scales of the Quality of Life in Epilepsy (QOLIE-AD48) for Adolescents questionnaires will be assessed. Possible scores range from 0-100 where higher scores reflect higher quality of life. QOLIE-AD48 is a survey of health-related QoL for adolescents with epilepsy. It will be used throughout the study by patients who are 11 to 17 years of age at Screening. | Baseline, 2 years |
| Efficacy of ION283 as measured by Patient-Weighted Quality of Life in Epilepsy inventory questionnaire | A change from baseline at 2 years in score scales of the Patient-Weighted Quality of Life in Epilepsy inventory (QOLIE-31P) (version 2) questionnaires will be assessed. Possible scores range from 0-100 where higher scores reflect higher quality of life. QOLIE-31P (version 2) is a survey of health-related QoL for adults. It will be used throughout the study by patients who are 18 years of age or older at Screening. | Baseline, 2 years |
| Efficacy of ION283 as measured by change in frequency of seizures from baseline | The change in frequency of seizures [for Tonic Clonic Seizures (TCS) and status Epilepticus] from baseline at 2 years would be assessed. | Baseline, 2 years |
| Efficacy of ION283 as measured by change in EEG recordings from baseline: Background rhythms (posterior dominant rhythm) | The change in Electroencephalogram (EEG) activity (i.e., frequency of background/ posterior dominant EEG rhythms) from baseline at 2 years would be assessed. | Baseline, 2 years |
| Efficacy of ION283 as measured by change in EEG recordings from baseline: Background rhythms ( normal versus abnormal sleep physiology to include presence of sleep spindles) | The change in Electroencephalogram (EEG) activity (i.e., frequency of background EEG rhythms-normal versus abnormal sleep physiology to include presence of sleep spindles) from baseline at 2 years would be assessed. | Baseline, 2 years |
| Efficacy of ION283 as measured by change in EEG recordings from baseline: Electrographic seizures on EEG | The change in Electroencephalogram (EEG) activity (i.e., frequency of Electrographic seizures) from baseline at 2 years would be assessed. | Baseline, 2 years |
| Efficacy of ION283 as measured by change in EEG recordings from baseline: Epileptiform discharges | The change in Electroencephalogram (EEG) activity (i.e., counts of epileptiform discharges) from baseline at 2 years would be assessed. | Baseline, 2 years |
| D001927 |
| Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000073376 | Epileptic Syndromes |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |