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Scientists track rare gene disorders to pave way for future treatments

NCT ID NCT07372833

First seen Feb 01, 2026 · Last updated Jun 23, 2026 · Updated 17 times

Summary

This study follows 150 children and adults worldwide who have ultra-rare mutations in CAMK2 genes, which cause developmental delays, seizures, and autism-like traits. Researchers will collect data on milestones, behavior, and seizures to create detailed disease maps. The goal is to better understand these disorders and identify measures for future clinical trials.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Erasmus MC

    RECRUITING

    Rotterdam, South Holland, 3015 GD, Netherlands

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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 future treatments.

What could go wrong

This is an observational study, not a treatment trial. It will not test any drug or therapy, and results may take years to influence care.

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.