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Withdrawn, no patients enrolled
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This is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age.
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| Measure | Description | Time Frame |
|---|---|---|
| Changes in neurodevelopmental parameters of adaptive behavior function over time utilizing the Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores | The Vineland Adaptive Behavior Scales, Second Edition (Survey Interview Form) is a measure of adaptive behavior in children, adolescents and adults. It yields an overall standard score (Adaptive Behavior Composite, ABC) and age standard scores in four domains. ABC scores have a mean of 100 and a standard deviation of 15 (range = 20 to 160). Higher scores suggest a higher level of adaptive functioning. | 2 Years |
| Changes in neurodevelopment parameters over time utilizing an age appropriate assessment. | The determination of whether a patient received Bayley Scales of Infant Development-III (BSID-III) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The BSID-III is a series of measurements to assess the motor (fine and gross), language (receptive and expressive), and cognitive development of infants and toddlers and consists of a series of developmental play tasks. contains two scoring systems of composite scores and percentile ranks. The normal range for composite scores is between 40-160 with mean at 100 and 0-99 for the percentile ranks. Higher scores mean a better outcome. | 2 Years |
| Changes in neurodevelopment parameters over time utilizing an age appropriate assessment. | The determination of whether a patient received Kaufman Assessment Battery for Children-II (KABC-II) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The KABC-II is an individually administered measure of processing and reasoning abilities. The scoring range is 69 and below through 131 or greater. Higher scores mean a better outcome. | 2 Years |
| Changes in seizure frequency over time | Seizure diary | 2 Years |
| Measure | Description | Time Frame |
|---|---|---|
| Changes in communication ability over time | Observer-Reported Communication Ability (ORCA) Outcome Measure. The ORCA measure produces a single score that is an estimate of an individual's overall level of communication ability. Higher ORCA scores reflect greater communication ability; the mastery of expressive, receptive, and pragmatic types of communication and higher vocabularies for verbal words and symbols on assistive devices. The ORCA T-score range is from 26.82 to 83.24. |
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Inclusion Criteria:
Exclusion Criteria:
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≤5 years of age with STXBP1 related encephalopathy with epilepsy.
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| Name | Affiliation | Role |
|---|---|---|
| Medical Monitor, MD | Capsida Biotherapeutics, Inc. | Study Director |
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| ID | Term |
|---|---|
| C567404 | Epileptic Encephalopathy, Early Infantile, 4 |
| D004827 | Epilepsy |
| D012640 | Seizures |
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D009461 | Neurologic Manifestations |
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STXBP1 gene mutation
| 2 Years |
| Changes in sleep behavior over time | Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ). | 2 Years |
| Changes in electroencephalogram (EEG) recording over time | Standard EEG, lasting approximately 1 hour, to assess the presence of epileptiform activity. | 2 Years |
| Changes in motor function over time utilizing an age appropriate assessment. | The Hammersmith Infant Neurological Examination (HINE) is aimed to be used for infants between 3 and 24 months of age and assess different aspects of neurological function: cranial nerve function, movements, reflexes and protective reactions and behavior, as well as some age-dependent items that reflect the development of gross and fine motor function. Each item is scored 0-3, higher scores mean a better outcome. | 2 Years |
| Changes in motor function over time utilizing an age appropriate assessment. | The Gross Motor Function Measure-88 is aimed to be used for children 5 months or older of age and assess changes in gross motor function over time. Each item is scored 0-3, higher scores mean a better outcome. | 2 Years |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |