Could a common supplement ease severe behaviors in rare genetic disorder?

NCT ID NCT04381897

First seen Jun 27, 2026 · Last updated Aug 14, 2026 · Updated 1 time

Summary

This pilot study tests whether N-acetylcysteine (NAC), an antioxidant supplement, can reduce repetitive and self-injurious behaviors in people with Cornelia de Lange syndrome (CdLS). Ten participants aged 13–35 will receive both NAC and a placebo in random order over 18 weeks. The goal is to see if NAC leads to a meaningful drop in symptom severity.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance
N-acetylcysteine (NAC)
What this could lead to
If it works, this could point toward a safe, accessible treatment to reduce distressing repetitive and self-injurious behaviors in people with Cornelia de Lange syndrome.
What could go wrong
This is a very small pilot study with only 10 participants, so results may not apply broadly. NAC has shown mixed results in similar conditions, and the trial is not yet recruiting.

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.

As listed by the trial registrant

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

Contacts and locations

Locations

  • Johns Hopkins University School of Medicine

    Baltimore, Maryland, 21205, United States

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