Status:
NOT_YET_RECRUITING
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
Lead Sponsor:
Johns Hopkins University
Collaborating Sponsors:
Cornelia de Lange Syndrome Foundation
Conditions:
Cornelia de Lange Syndrome
Eligibility:
All Genders
13-35 years
Phase:
PHASE2
Brief 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) ...
Detailed Description
Cornelia de Lange syndrome (CdLS) is a genetic condition caused by mutations in cohesin-related genes, mostly notably NIPBL. The CdLS phenotype includes physical features such as typical facies, limb ...
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)
Key Trial Info
Start Date :
March 1 2026
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
May 1 2027
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT04381897
Start Date
March 1 2026
End Date
May 1 2027
Last Update
November 7 2025
Active Locations (1)
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1
Johns Hopkins University School of Medicine
Baltimore, Maryland, United States, 21205