Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome

Starting soon · Phase 2 · Has a placebo group

Conditions studied: Cornelia de Lange Syndrome

In brief

This research project is a randomized cross-over pilot trial which aims to test the efficacy of N-acetylcysteine (NAC) for the treatment of Repetitive Behaviors (RB) and self-injurious behavior (SIB) in patients with Cornelia de Lange Syndrome (CdLs). NAC is a known anti-oxidative stress and neuroprotective agent, which has been shown to decrease the occurrence of SIB such as skin picking. NAC has also shown partial response in trials for compulsive behaviors in Obsessive Compulsive Disorder (OCD) and related disorders in autism. Cornelia de Lange syndrome (CdLS) is a genetic disorder with autistic features, including RBs and SIB. In this randomized clinical trial, participants with CdLS will be blindly assigned one of two possible treatment arms: 1) placebo (8 weeks) and NAC (8 weeks); or 2) NAC (8 weeks) and placebo (8 weeks), with an intermediate 2-week washout period.

Key facts

Study ID

NCT04381897

Run by

Johns Hopkins University

People needed

10

Starts

2026-08-01

Expected to finish

2027-05-01

Last updated by the study team

2026-03-06

Who can join

Age: 13 and older, up to 35. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Ages 13 to 35 years
• A diagnosis of CdLS as determined by a physician during routine care meeting the major and minor criteria from CdLS guidelines
• Threshold criteria for the presence of RB/SIB as reported on initial screening Children's Yale-Brown Obsessive Compulsive Scale Modified for Pervasive Developmental Disorders (CYBOCS-PDD) > 6 OR Aberrant Behavior Checklist (ABC) stereotypy subscale > 7)
• Being able to attend 4 visits over the course of 18 weeks at the Johns Hopkins Hospital
• No acute safety concerns or need for hospitalization due to psychotic, manic or depressive episode
• Not currently pregnant or lactating/breastfeeding. Whether a participant is pregnant or not will be determined by the participant/caregiver report based on date last menses. If there is any suspicion of pregnancy, the PI will confer with the family to obtain testing through the primary care provider.

You may not qualify if…

• Allergy to NAC
• Allergy to Quinine
• Contraindication to NAC (organ transplant; untreated or symptomatic gastric condition)
• Need for another medication with which NAC is contraindicated (antibiotics)

Where it is running

• Johns Hopkins University School of Medicine — Baltimore, Maryland, United States

Full record on ClinicalTrials.gov

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