RecruitingNot Applicable

CNKSR2 Natural History Study

United States15 participantsStarted 2022-01-01

Plain-language summary

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.

Who can participate

Age range

6 Years – 21 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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).

Exclusion criteria

. 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.
. 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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change from baseline in functional connectivity within the epileptiform network using resting-state functional magnetic resonance imaging (fMRI).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in functional connectivity within the language network using resting-state functional magnetic resonance imaging (fMRI).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in cortical evoked response to self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in cortical evoked response to altered auditory feedback during self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in resting state brain activity as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in resting state background brain activity during sleep as measured by phase lag index using electroencephalography (EEG).

Trial details

NCT IDNCT06500260

SponsorUniversity of California, San Francisco

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-12-31

Contact for this trial

Alex Fay, MD, PhD

415-353-7596 alexander.fay@ucsf.edu

View on ClinicalTrials.gov More Developmental Dysphasia trials

Plain-language summary

Who can participate

Age range

6 Years – 21 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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).

Exclusion criteria

. 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.
. 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.

What they're measuring

Change from baseline in functional connectivity within the epileptiform network using resting-state functional magnetic resonance imaging (fMRI).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in functional connectivity within the language network using resting-state functional magnetic resonance imaging (fMRI).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in cortical evoked response to self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in resting state brain activity as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).

Timeframe: Baseline, Month 12, Month 24

Change from baseline in resting state background brain activity during sleep as measured by phase lag index using electroencephalography (EEG).