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

NCT04381897 · Status: NOT_YET_RECRUITING · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2026-03-06

No results posted yet for this study

Summary

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.

Conditions

  • Cornelia de Lange Syndrome

Interventions

DRUG

N-acetyl cysteine

Oral solution for N-acetyl cysteine is prepared in syringes and provided to the participants along with instructions on how to administer them.

OTHER

Placebo

NAC Placebo-matching solution is prepared in syringes and provided to the participants along with instructions on how to administer them.

Sponsors & Collaborators

Principal Investigators

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

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
TRIPLE
Model
CROSSOVER

Eligibility

Min Age
13 Years
Max Age
35 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-08-01
Primary Completion
2027-05-01
Completion
2027-05-01
FDA Drug
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04381897 on ClinicalTrials.gov