Massive global study aims to crack the code of rare childhood brain disorders

NCT ID NCT06585605

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study collects information from 500 children worldwide who have both epilepsy and movement disorders caused by specific gene changes. Researchers will analyze medical records to find patterns linking symptoms to genetics. The goal is to create a shared database that helps doctors diagnose and treat these rare conditions more effectively.

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 could help doctors better diagnose and treat children with epilepsy and movement disorders by linking specific genes to symptoms.

What could go wrong

This is an observational study that only looks back at existing data, so it won't test any new treatments directly. Results may not apply to all patients.

Disclaimer Read more

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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Conditions

The condition(s) this trial relates to.

Ataxia cerebellar ataxia childhood-onset epilepsy syndrome choreatic disease Dyskinesias Dystonia dystonia 12 dystonic disorder epilepsy generalized epilepsy-paroxysmal dyskinesia syndrome movement disorder Myoclonus nervous system disorder

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

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

  • Contact

    Email: •••••@•••••

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

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

    Contact

    Contact