CNKSR2 Natural History Study
This study is observing children and young adults with a specific genetic change (CNKSR2 mutation) who also have intellectual disability or developmental delays, and a condition called epilepsy aphasia syndrome (EAS). The goal is to better understand the characteristics of this condition in people aged 6 to 21 years old. Researchers will use special brain scans, called functional magnetic resonance imaging (fMRI) and magnetoencephalography (MEG), to look at how brain activity changes over time. This information will help future studies that test new treatments for CNKSR2-related conditions. This is an observational study, meaning no specific interventions or treatments are being tested.
- Study design
- This is an observational study planning to enroll 20 participants. It is designed to understand the natural course of the condition.
- What's involved
- Participants will have assessments at baseline, 12 months, and 24 months, including fMRI and MEG brain scans.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for 24 months after their initial assessment.
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CNKSR2 Natural History Study
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Alex Fay, MD, PhD · PRINCIPAL_INVESTIGATOR · [email protected]
Who to contact
This trial hasn't published a contact. View it on ClinicalTrials.gov
What this trial measures
- Change from baseline in functional connectivity within the epileptiform network using resting-state functional magnetic resonance imaging (fMRI).Baseline, Month 12, Month 24
Functional connectivity is unitless.
- Change from baseline in functional connectivity within the language network using resting-state functional magnetic resonance imaging (fMRI).Baseline, Month 12, Month 24
Functional connectivity is unitless.
- Change from baseline in cortical evoked response to self-produced speech as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).Baseline, Month 12, Month 24
Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure.
- 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).Baseline, Month 12, Month 24
Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure.
- Change from baseline in resting state brain activity as measured by voxel-wise source reconstructed brain activation using magnetoencephalography (MEG).Baseline, Month 12, Month 24
Voxel-wise source reconstructed brain activation assesses localized brain function by mapping neural activity at the voxel level. It is a unitless measure.
- Change from baseline in resting state background brain activity during sleep as measured by phase lag index using electroencephalography (EEG).Baseline, Month 12, Month 24
Phase lag index ranges between 0 and 1 and is unitless. A phase lag index of zero indicates either no coupling or coupling with a phase difference centered around 0 mod π.
- Change from baseline in spike-wave index during sleep as measured by percentage using electroencephalography (EEG).Baseline, Month 12, Month 24
Spike-wave index is the sum of all spike and slow wave minutes multiplied by 100 and divided by the total non-rapid eye movement sleep minutes.
- Change from baseline in neurodevelopmental status as measured by Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) scaled scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 1, maximum score: 19).
- Change from baseline in neurodevelopmental status as measured by the Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) standard scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 45, maximum score: 155).
- Change from baseline in neurodevelopmental status as measured by the Wechsler Preschool and Primary Scale of Intelligence, 4th Edition (WPPSI-IV) composite scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 40, maximum score: 160).
- Change from baseline in neurodevelopmental status as measured by the Wechsler Preschool and Primary Scale of Intelligence, 4th Edition (WPPSI-IV) scaled scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 1, maximum score: 19).
- Change from baseline in neurodevelopmental status as measured by the Wechsler Abbreviated Scale of Intelligence, 2nd Edition (WASI-II) composite scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 40, maximum score: 160).
- Change from baseline in neurodevelopmental status as measured by the Wechsler Abbreviated Scale of Intelligence, 2nd Edition (WASI-II) T-scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 20, maximum score: 80).
- Change from baseline in neurodevelopmental status as measured by Parent Report Form of Vineland Adaptive Behavior Scales, 3rd Edition (Vineland-3) Adaptive Behavior Composite score and Domain scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 20, maximum score: 140).
- Change from baseline in neurodevelopmental status as measured by Parent Report Form of Vineland Adaptive Behavior Scales, 3rd Edition (Vineland-3) V-Scale Scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: 1, maximum score: 24).
- Change from baseline in performance on the Receptive One-Word Picture Vocabulary Test, 4th Edition standard scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: \< 55, maximum score: \> 165).
- Change from baseline in performance on the Expressive One-Word Picture Vocabulary Test, 4th Edition standard scores.Baseline, Month 12, Month 24
Higher scores indicate a better outcome (minimum score: \< 55, maximum score: \> 165).
- Change from baseline in ADHD Rating Scale, 4th Edition (ADHD-RS-IV) inattention subscale raw scores.Baseline, Month 6, Month 12, Month 18, Month 24
Lower scores indicate a better outcome (minimum score: 0, maximum score: 9).
- Change in hyperactivity as measured by ADHD Rating Scale, 4th Edition (ADHD-RS-IV) hyperactivity subscale raw scores.Baseline, Month 6, Month 12, Month 18, Month 24
Lower scores indicate a better outcome (minimum score: 0, maximum score: 9).
- Change in physical functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.Baseline, Month 6, Month 12, Month 18, Month 24
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).
- Change in emotional functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.Baseline, Month 6, Month 12, Month 18, Month 24
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).
- Change in social functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.Baseline, Month 6, Month 12, Month 18, Month 24
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).
- Change in school functioning as measured by Pediatric Quality of Life Inventory (PedsQL) scale scores.Baseline, Month 6, Month 12, Month 18, Month 24
Lower scores indicate a better outcome (minimum score: 0, maximum score: 100).