RECRUITING

CNKSR2 Natural History Study

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Conditions

Developmental DysphasiaEpileptic Encephalopathy, Childhood-OnsetX-Linked Intellectual DisabilityESESCSWSCNKSR2EpilepsyLanguage Disorder

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Quick Facts

Study Start:2022-01-01
Study Completion:2025-12-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06500260

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:6 Years to 21 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Age between 6 and 21 years (inclusive) at time of consent.
  2. 2. Confirmed CNKSR2 mutation, as demonstrated by genetic testing and confirmed by the investigators.
  3. 3. Confirmed intellectual disability or developmental delays, as defined by the American Academy of Pediatrics (Moeschler, J, et al. 2014).
  1. 1. Known pathogenic or clinically suspected mutation in a seizure-associated gene besides CNKSR2.
  2. 2. Confirmed mutation in a gene besides CNKSR2 that is known to increase the severity of the seizure phenotype.
  3. 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.

Contacts and Locations

Study Contact

Alex Fay, MD, PhD
CONTACT
415-353-7596
alexander.fay@ucsf.edu
Maya Dhar, MS
CONTACT
415-353-9465
maya.dhar@ucsf.edu

Principal Investigator

Alex Fay, MD, PhD
PRINCIPAL_INVESTIGATOR
alexander.fay@ucsf.edu

Study Locations (Sites)

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

Collaborators and Investigators

Sponsor: University of California, San Francisco

  • Alex Fay, MD, PhD, PRINCIPAL_INVESTIGATOR, alexander.fay@ucsf.edu

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-01-01
Study Completion Date2025-12-31

Study Record Updates

Study Start Date2022-01-01
Study Completion Date2025-12-31

Terms related to this study

Keywords Provided by Researchers

  • X-linked Intellectual Disability
  • ESES
  • CSWS
  • CNKSR2
  • Epilepsy
  • Language Disorder

Additional Relevant MeSH Terms

  • Developmental Dysphasia
  • Epileptic Encephalopathy, Childhood-Onset
  • X-Linked Intellectual Disability