NCT06500260Active, not recruiting
CNKSR2 Natural History Study
Natural History Study of Infants and Children With CNKSR2-Associated Neurodevelopmental Disorders and Epilepsy
Source: ClinicalTrials.gov · Last updated 23 Jul 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 20 (estimated)
- First submitted
- 1 Mar 2024
- Start date
- Jan 2022
- Primary completion date
- Apr 2028
- Lead sponsor
- University of California, San Francisco
- Diseases
- Epilepsy
- NCT number
- NCT06500260
What you commit to
- Study type: Observational
- Planned participants: 20
- From Jan 2022 to the primary completion date, Apr 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Known pathogenic or clinically suspected mutation in a seizure-associated gene besides CNKSR2.
- Confirmed mutation in a gene besides CNKSR2 that is known to increase the severity of the seizure phenotype.
Other
- 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.
Who the study is looking for
- Age between 6 and 21 years (inclusive) at time of consent.
- Confirmed CNKSR2 mutation, as demonstrated by genetic testing and confirmed by the investigators.
- Confirmed intellectual disability or developmental delays, as defined by the American Academy of Pediatrics (Moeschler, J, et al. 2014).
Age in the registry: 6 years to 21 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University of California, San Francisco (UCSF) Coordinator of this site? Confirm its status | San Francisco | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.