Actively Recruiting
CNKSR2 Natural History Study
Led by University of California, San Francisco · Updated on 2024-07-15
15
Participants Needed
1
Research Sites
208 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
CNKSR2 Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age between 6 and 21 years (inclusive) at time of consent
- Confirmed CNKSR2 mutation demonstrated by genetic testing and confirmed by investigators
- Confirmed intellectual disability or developmental delays as defined by the American Academy of Pediatrics
You will not qualify if you...
- Known pathogenic or suspected mutation in a seizure-associated gene other than CNKSR2
- Confirmed mutation in a gene besides CNKSR2 that increases seizure severity
- Known central nervous system structural abnormality on brain imaging not consistent with CNKSR2 epilepsy aphasia syndrome or intellectual disability
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of California, San Francisco (UCSF)
San Francisco, California, United States, 94158
Actively Recruiting
Research Team
A
Alex Fay, MD, PhD
CONTACT
M
Maya Dhar, MS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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