Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
NCT ID: NCT04537832
Last Updated: 2023-06-12
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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TERMINATED
58 participants
OBSERVATIONAL
2021-01-18
2023-03-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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SCN1A-positive Dravet Syndrome
Participants aged between 6 and 60 months of age who have SCN1A-positive Dravet Syndrome. Clinical, neurocognitive, laboratory, the burden of disease, and health care resource utilization will be assessed.
No Intervention
No Intervention
Interventions
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No Intervention
No Intervention
Eligibility Criteria
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Inclusion Criteria
* 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
* 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.
6 Months
60 Months
ALL
No
Sponsors
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Encoded Therapeutics
INDUSTRY
Responsible Party
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Principal Investigators
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Salvador Rico, M.D., Ph.D
Role: STUDY_DIRECTOR
Encoded Therapeutics
Locations
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Children's Hospital Los Angeles
Los Angeles, California, United States
UCSF Benioff Children's Hospital
San Francisco, California, United States
Children's Hospital Colorado
Aurora, Colorado, United States
Nicklaus Children's Hospital
Miami, Florida, United States
Ann and Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
Northeast Regional Epilepsy Group
Hackensack, New Jersey, United States
Abigail Wexner Research Institute at Nationwide Children's Hospital
Columbus, Ohio, United States
Oregon Health and Science University
Portland, Oregon, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Le Bonheur Children's Hospital
Memphis, Tennessee, United States
Cook Children's Medical Center
Fort Worth, Texas, United States
Multicare Institute for Research and Innovation
Tacoma, Washington, United States
Austin Hospital - Melbourne Brain Centre
Heidelberg, Victoria, Australia
Hospital de la Santa Creu i Sant Pau
Barcelona, , Spain
Hospital Universitari i Politècnic La Fe
Valencia, , Spain
Queen Elizabeth Hospital
Glasgow, , United Kingdom
Countries
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Other Identifiers
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ETX-DS-001
Identifier Type: -
Identifier Source: org_study_id
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