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CNKSR2 Natural History Study

Study acronym: CNKSR2
StatusActive, Not Recruiting
PhaseNot specified
Started2022-01-01
View on ClinicalTrials.gov ↗
Trial flagged as At Risk
Primary completion moved at least 28 months later Dec 31, 2025 → Apr 30, 2028
See other at-risk trials from University of California, San Francisco

Amendment history

2026-07-21
critical
Study Status, Study Design, Contacts/Locations v1
Trial status changed: Recruiting → Active, Not Recruiting
Enrollment increased: 15 → 20 participants
Primary completion pushed: 2025-12-31 → 2028-04-30
Completion pushed: 2025-12-31 → 2028-12-31
Study sitesdetails revised at 1 of 1 site
2024-07-11
minor
Original filing
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.
Trial Details
NCT Number NCT06500260
Lead Sponsor University of California, San Francisco
Conditions Developmental Dysphasia, Epileptic Encephalopathy, Childhood-Onset, X-Linked Intellectual Disability
Enrollment 20 participants
Start Date 2022-01-01
Primary Completion 2028-04-30 (estimated)
Study Completion 2028-12-31 (estimated)
Updated on ClinicalTrials.gov 2026-07-23