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Scientists launch global effort to map rare brain disorders

NCT ID NCT07372833

Knowledge-focused Sponsor: Erasmus Medical Center Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 150 children and adults worldwide who have a rare genetic condition affecting CAMK2 genes. Researchers will track development, seizures, behavior, and social skills over time. The goal is to create a clear picture of how the disorder progresses, which can help doctors give better care and prepare for future treatment trials.

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 successful, this study will create detailed maps of how CAMK2 disorders progress, helping doctors predict outcomes and design better treatments.
What could go wrong
This is an observational study, not a treatment trial. It collects data only and cannot directly improve symptoms. Results may take years to influence care.

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 150 people

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

Started

Feb 2021

Expected to finish

Jan 2040

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

National and international children and adults with a (likely) pathogenic variation in one of the CAMK2 genes.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Subject with a (likely) pathogenic variation in one of the CAMK2 genes * Consent for anonymous registration in an (inter)national database Exclusion Criteria: \- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.

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Conditions

The condition(s) this trial relates to.

CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy

As listed by the trial registrant

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

Calcium/calmodulin-dependent protein kinase 2 CAMK2

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Erasmus MC

    RECRUITING

    Rotterdam, South Holland, 3015 GD, Netherlands