Massive study tracks 1,000 people with rare genetic brain conditions to map symptoms

NCT ID NCT03492060

Recruiting now Knowledge-focused Sponsor: Columbia University Source: ClinicalTrials.gov ↗

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.

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

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Conditions

The condition(s) this trial relates to.

autism spectrum disorder epilepsy intellectual disability learning disability Muscle Hypertonia Muscle Hypotonia neurodevelopmental disorder visual epilepsy

As listed by the trial registrant

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

AUTISM SPECTRUM DISORDER DEVELOPMENTAL DELAY HYPERTONIA, MUSCLE HYPOTONIA INTELLECTUAL DISABILITY NEURODEVELOPMENTAL DISORDERS SEIZURES

Contacts and locations

Locations

Columbia University Irving Medical Center
RECRUITING

New York, New York, 10032, United States

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