Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies (NCT04537832) | Clinical Trial Compass
TerminatedNot Applicable
Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
Stopped: The ENVISION study has generated a robust data set that shows consistency in the seizure and non-seizure manifestations of SCN1A+ Dravet syndrome.
United States58 participantsStarted 2021-01-18
Plain-language summary
This is a multicenter, prospective, 2-year observational study in infants and children with developmental and epileptic encephalopathies (DEEs). The DEE currently being investigated is SCN1A-positive Dravet Syndrome.
Who can participate
Age range6 Months – 60 Months
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Aged between 6 months and 60 months.
* Confirmed SCN1A mutation.
* Normal development prior to onset of first seizure as defined by the Centers for Disease -Control and Prevention (CDC 2019).
* Onset of seizures between age 3 and 15 months, inclusive.
Exclusion Criteria:
* Copy number variant of SCN1A, including SCN1A microdeletion, if affecting other genes.
* SCN1A mutation present on both alleles.
* Known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A.
* Confirmed mutation in a gene besides SCN1A that is known to increase the severity of the seizure phenotype.
* Known gain-of-function genetic mutation, as defined by functional studies, including p.Thr226Met.
* History of notable developmental deficit that was evident prior to seizure onset.
* Known central nervous system structural abnormality as found on magnetic resonance imaging or computed tomography scan of brain.
* Currently taking or has taken for 6 or more consecutive weeks anti-seizure medications (ASMs) at a therapeutic dose that are contraindicated in SCN1A-positive Dravet Syndrome, including sodium channel blockers.
* Known concomitant genetic mutation or clinical comorbidity that potentially confounds typical Dravet phenotype.