Actively Recruiting
Natural History Study of Infants and Children With CNKSR2-Associated Neurodevelopmental Disorders and Epilepsy
Led by University of California, San Francisco · Updated on 2024-07-15
15
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting a prospective natural history study focusing on children aged 6 to 21 years who have CNKSR2 mutations causing epilepsy aphasia syndrome (EAS) and intellectual disability (ID). The study aims to characterize the electroclinical, neurodevelopmental, and behavioral features of this condition. The collected data will serve as an external control for future clinical trials testing precision medicine treatments designed to improve seizures and neurodevelopmental outcomes in these patients. Participants will be observed without receiving investigational treatments, as this is an observational study. The research includes repeated assessments using advanced brain imaging techniques such as resting-state functional magnetic resonance imaging (fMRI), magnetoencephalography (MEG), and electroencephalography (EEG). These assessments occur at baseline, 12 months, and 24 months to track changes in brain connectivity, brain activity, and cortical responses related to speech and auditory feedback. During the study, children will undergo various evaluations including neurodevelopmental tests like the Bayley Scales of Infant and Toddler Development, Wechsler intelligence scales, Vineland Adaptive Behavior Scales, and attention and quality of life rating scales. These evaluations are scheduled across multiple time points over two years. Researchers will monitor changes in seizure-related brain activity, cognitive and behavioral functioning, and quality of life. The study is sponsored by the University of California, San Francisco, and aims to provide detailed natural history data to support future therapeutic trials.
CONDITIONS
Brief 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 clinically suspected mutation in a seizure-associated gene besides CNKSR2
- Confirmed mutation in a gene besides CNKSR2 that increases severity of seizure phenotype
- Known central nervous system structural abnormality confirmed by brain imaging not consistent with CNKSR2 EAS/ID clinical phenotype
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Baseline assessments
Participants undergo brain imaging and neurodevelopmental assessments to evaluate functional connectivity, brain activity, and developmental status.
1 baseline visit (in-person)
Duration - 24 months
Participants are monitored over 24 months with repeated assessments to track changes in brain function, neurodevelopment, and behavior.
Visits at Month 6, Month 12, Month 18, and Month 24
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
M
Maya Dhar, MS
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
Frequently Asked Questions
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