Massive study tracks 1,000 people with rare genetic brain conditions to map symptoms
NCT ID NCT03492060
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study follows 1,000 people who have certain genetic changes (hnRNP and others) that may cause developmental delays, autism, seizures, or muscle problems. Researchers collect medical records, school reports, and questionnaires to see how these gene variants affect behavior, thinking, movement, and daily life. No new treatments are given—the goal is simply to learn more about these conditions.
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 understand how certain genetic changes affect development and behavior, potentially guiding future care.
What could go wrong
This is an observational study, not a treatment trial. It will not directly improve health, and results may take years to influence medical practice.
Disclaimer
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This is a summary of
the original study
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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.
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.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Email: •••••@•••••
Locations
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Columbia University Irving Medical Center
RECRUITINGNew York, New York, 10032, United States
Contact Email: •••••@•••••
Contact Email: •••••@•••••