This study is in progress, not accepting new patients

CNKSR2 Natural History Study

a study on Developmental Dysphasia Epileptic Encephalopathy X-Linked Intellectual Disability Epilepsy

Summary

Eligibility
for people ages 6-21 (full criteria)
Location
at UCSF
Dates
study started
study ends around
Principal Investigator
by Alex Fay, MD, PhD (ucsf)

Description

Summary

This prospective natural history study is being conducted to define the electroclinical, neurodevelopmental, and behavioral characteristics of CNKSR2 epilepsy aphasia syndrome (EAS) and intellectual disability (ID) in children aged 6 to 21 years old with CNKSR2 mutations.

The data collected from this study will serve as an external control to eventual clinical trials examining precision medicine investigational therapeutics that aim to improve the seizure burden and neurodevelopmental outcomes in patients with CNKSR2 EAS/ID.

Official Title

Natural History Study of Infants and Children With CNKSR2-Associated Neurodevelopmental Disorders and Epilepsy

Keywords

Developmental Dysphasia, Epileptic Encephalopathy, Childhood-Onset, X-Linked Intellectual Disability, ESES, CSWS, CNKSR2, Epilepsy, Language Disorder, Language Disorders

Eligibility

You can join if…

Open to people ages 6-21

  1. Age between 6 and 21 years (inclusive) at time of consent.
  2. Confirmed CNKSR2 mutation, as demonstrated by genetic testing and confirmed by the investigators.
  3. Confirmed intellectual disability or developmental delays, as defined by the American Academy of Pediatrics (Moeschler, J, et al. 2014).

You CAN'T join if...

  1. Known pathogenic or clinically suspected mutation in a seizure-associated gene besides CNKSR2.
  2. Confirmed mutation in a gene besides CNKSR2 that is known to increase the severity of the seizure phenotype.
  3. Known central nervous system structural abnormality confirmed by imaging scan of the brain that is not consistent with the clinical phenotype of CNKSR2 EAS / ID.

Location

  • University of California, San Francisco (UCSF)
    San Francisco California 94158 United States

Lead Scientist at University of California Health

Details

Status
in progress, not accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT06500260
Study Type
Observational
Participants
Expecting 20 study participants
Last Updated