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N-Acetylcysteine for Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome

This study is testing if N-acetylcysteine (NAC) can help reduce repetitive behaviors and self-injury in people with Cornelia de Lange Syndrome (CdLS). NAC is a substance that may protect brain cells and has shown some promise in similar conditions. You may be able to join if you are 13 to 35 years old, have a doctor's diagnosis of CdLS, and experience certain repetitive or self-injurious behaviors. The researchers will measure changes in these behaviors over 18 weeks to see if NAC is effective. This study is currently recruiting about 10 participants, but its overall status is unclear.

Study design
This is a randomized, double-blind, cross-over pilot study, meaning participants will receive both N-acetylcysteine and a placebo at different times, without knowing which they are receiving. It plans to enroll 10 participants.
What's involved
Participants will take either N-acetylcysteine or a placebo solution for two 8-week periods, with a 2-week break in between. Behavior will be measured at baseline and every two weeks for 18 weeks.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 18 weeks, with measurements taken at various points throughout this period.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04381897

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

Not Yet Recruiting
PHASE2Ages 13–35InterventionalTreatment
Johns Hopkins University
~10 participants
Updated 2026-08-14 on ClinicalTrials.gov
What's tested:N-acetyl cysteinePlacebo

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Change in Children's Yale-Brown Obsessive Compulsive Scale Modified for Pervasive Developmental Disorders (CYBOCS-PDD) repetitive behaviors measure score
Measured over Baseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18
+1 more outcome measured

Conditions

Cornelia de Lange Syndrome

Explore related trials

Cornelia De Lange Syndrome

NCT04381897

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Johns Hopkins University School of Medicine

    Baltimore, Marylandstudy coordinator listed

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Marco A Grados, M.D., M.P.H. · PRINCIPAL_INVESTIGATOR · Department of Psychiatry & Behavioral Sciences, Johns Hopkins School of Medicine

Who to contact

Masoud Salehi, M.D.
[email protected]
443-857-9365
Email the study team

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Eligibility criteria

Inclusion

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.

Exclusion

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)

What this trial measures

  • Change in Children's Yale-Brown Obsessive Compulsive Scale Modified for Pervasive Developmental Disorders (CYBOCS-PDD) repetitive behaviors measure scoreBaseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18

    CYBOCS-PDD scores range from a minimum of 0 to a maximum of 20, higher scores indicate greater symptom severity. Efficacy of the intervention would be assessed by ≥35% reduction in CYBOCS-PDD repetitive behaviors measure score.

  • Change in Aberrant Behavior Checklist (ABC) irritability self-injurious behaviors items scoreBaseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18

    The ABC irritability sub-scale consists of 15 items of which 3 focus on Self-injurious Behaviors (SIB). Each item takes scores ranging from a minimum of 0 to a maximum of 3. The overall score for the SIB items would range from 0 to 9 with higher scores indicating greater symptom severity. Efficacy of the intervention in reducing self-injurious behaviors would be assessed by a ≥35% reduction in ABC irritability SIB items sub-scale score.