Use 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
Johns Hopkins University
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.
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 abnormalities, short stature, and hirsutism as well developmental and behavioral manifestations such as intellectual disability, communication deficits, autistic traits and repetitive/self-injurious behaviors (RBs/SIB). Behavioral challenges such as RBs/SIB pose a significant obstacle to quality of life to individuals with CdLS and families. In CdLS, disruption of developmental systems can impact…
Eligibility
- Age range
- 13–35 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * 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 o…
Interventions
- DrugN-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.
- OtherPlacebo
NAC Placebo-matching solution is prepared in syringes and provided to the participants along with instructions on how to administer them.
Location
- Johns Hopkins University School of MedicineBaltimore, Maryland