Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies

Stopped early

Conditions studied: Dravet Syndrome

In brief

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.

Key facts

Study ID

NCT04537832

Run by

Encoded Therapeutics

People needed

58

Starts

2021-01-18

Expected to finish

2023-03-31

Last updated by the study team

2023-06-12

Who can join

Age: 1 and older, up to 5. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• 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

Full record on ClinicalTrials.gov

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