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Can mapping a rare Gene's effects pave the way to targeted epilepsy therapies?

NCT ID NCT06500260

Knowledge-focused Sponsor: University of California, San Francisco Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 23, 2026 · Last updated Jul 24, 2026 · Updated 1 time

Summary

This study follows children aged 6 to 21 who have a CNKSR2 gene mutation, which can cause epilepsy, language difficulties, and intellectual disability. Researchers will use brain scans, EEGs, and developmental tests to track how the condition changes over time. The goal is to create a detailed picture of the disorder that could serve as a baseline for future trials of precision medicines.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If this study maps the typical course of CNKSR2-related epilepsy and developmental delays, it could help design future precision treatments for this rare condition.
What could go wrong
This is an observational study with no treatment being tested. It will not directly improve symptoms, and results may take years to inform therapy development.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 20 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2022

Expected to finish

Dec 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Children with CNKSR2 pathogenic mutation and characteristic features of CNKSR2 neurodevelopmental disorder and/or epilepsy

Ages

6 to 21 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: 1. Age between 6 and 21 years (inclusive) at time of consent. 2. Confirmed CNKSR2 mutation, as demonstrated by genetic testing and confirmed by the investigators. 3. Confirmed intellectual disability or developmental delays, as defined by the American Academy of Pediatrics (Moeschler, J, et al. 2014). Exclusion Criteria: 1. Known pathogenic or clinically suspected mutation in a seizure-associated gene besides CNKSR2. 2. Confirmed mutation in a gene besides CNKSR2 that is known to increase the severity of the seizure phenotype. 3. 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.

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Conditions

The condition(s) this trial relates to.

autism, susceptibility to, X-linked 2 developmental and epileptic encephalopathy 94 epilepsy familial developmental dysphasia intellectual disability language disorder X-linked intellectual disability

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Developmental dysphasia Epileptic encephalopathy, childhood-onset X-linked intellectual disability

Contacts and locations

Locations

  • University of California, San Francisco (UCSF)

    San Francisco, California, 94158, United States

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