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

Study Aim

This study aims to evaluate whether N-Acetylcysteine can effectively reduce repetitive and self-injurious behaviors in individuals with Cornelia de Lange Syndrome.

What is being tested

N-acetyl cysteine

+ Placebo

DrugOther

Who is being recruted

Congenital Abnormalities+11

+ Abnormalities, Multiple

+ Behavior

From 13 to 35 Years

+10 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Treatment Study

Phase 2

Interventional

Study Start: March 2026

See protocol details

Summary

Principal SponsorJohns Hopkins University

Study ContactMasoud Salehi, M.D.

Last updated: January 28, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: March 1, 2026

Actual date on which the first participant was enrolled.

This study explores the use of a medication called N-Acetylcysteine (NAC) to help individuals with Cornelia de Lange Syndrome (CdLS) who experience repetitive behaviors and self-injurious behaviors. CdLS is a genetic disorder that can cause both physical and developmental challenges, including behaviors that can significantly affect the quality of life for those affected and their families. The study aims to see if NAC, which acts as an antioxidant in the brain, can reduce these challenging behaviors. Previous research suggests that NAC might help because it can decrease harmful behaviors by balancing certain chemicals in the brain. The study involves an 18-week trial where participants will take either NAC or a placebo. The trial is designed to be double-blind, meaning neither the participants nor the researchers know who is receiving the real treatment. The medication starts at a dose of 600 mg per day and is increased weekly to a final dose of 1800 mg. The effectiveness of the treatment will be measured by looking at changes in scores from specific behavior checklists used to assess irritability and repetitive behaviors. Improvement is defined as a significant reduction in these scores, indicating fewer or less severe behaviors. This approach could potentially offer a new way to manage symptoms associated with CdLS, improving the lives of those affected.

Official TitleUse of N-Acetylcysteine (NAC) in the Treatment of Repetitive Behaviors (RB) and Self-Injurious Behaviors (SIB) in Cornelia de Lange Syndrome: A Randomized Double-Blind Placebo-Controlled Pilot Study

NCT04381897

Principal SponsorJohns Hopkins University

Study ContactMasoud Salehi, M.D.

Last updated: January 28, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

10 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Treatment Study

These studies test new ways to treat a disease, condition, or health issue. The goal is to see if a new drug, therapy, or approach works better or has fewer side effects than existing options.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Conditions

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 13 to 35 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Congenital AbnormalitiesAbnormalities, MultipleBehaviorMental DisordersBehavioral SymptomsDe Lange SyndromeIntellectual DisabilityCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNervous System DiseasesNeurologic ManifestationsSelf-Injurious BehaviorNeurobehavioral ManifestationsChromosome DisordersGenetic Diseases, Inborn

Criteria

6 inclusion criteria required to participate

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.

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)

Show More Criteria

4 exclusion criteria prevent from participating

Allergy to Quinine

Allergy to NAC

Contraindication to NAC (organ transplant; untreated or symptomatic gastric condition)

Need for another medication with which NAC is contraindicated (antibiotics)

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Treatment Groups

Study Objectives

2 intervention groups are designated in this study

This study does not include a placebo group

Treatment Groups

Group I

Experimental

NAC 1800 milligrams (mg), oral solution, every 8 hours for 8 weeks, followed by a 2-week wash-out period, followed by NAC Placebo-matching solution, orally every 8 hours, for 8 weeks. Dosage will be titrated weekly starting at 600 mg daily and then increased by 600 mg every week to a target dose of 1800 mg per day.

Group II

Experimental

NAC Placebo-matching solution, orally every 8 hours, for 8 weeks, followed by a 2-week wash-out period, followed by NAC 1800 milligrams (mg), oral solution, every 8 hours for 8 weeks. Dosage will be titrated weekly starting at 600 mg daily and then increased by 600 mg every week to a target dose of 1800 mg per day.

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Suspended

Johns Hopkins University School of Medicine

Baltimore, United StatesOpen Johns Hopkins University School of Medicine in Google Maps

Recruiting soonOne Study Center