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

Conditions

• Cornelia de Lange Syndrome

Eligibility Criteria

Sex

ALL

Age

13 Years - 35 Years

Healthy Volunteers

Not accepted

Interventions

• N-acetyl cysteine — DRUG
  Oral solution for N-acetyl cysteine is prepared in syringes and provided to the participants along with instructions on how to administer them.
• Placebo — OTHER
  NAC Placebo-matching solution is prepared in syringes and provided to the participants along with instructions on how to administer them.

Study Details

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.

Key Dates

Start date

Aug 1, 2026

Status verified

Mar 2026

Primary completion

May 1, 2027

Completion

May 1, 2027

Study Design

Enrollment

10 participants (estimated)

Allocation

RANDOMIZED

Intervention model

CROSSOVER

Primary purpose

TREATMENT

Arms

• Experimental: Group A: NAC 1800mg then Placebo
  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.
• Experimental: Group B: Placebo then NAC 1800mg
  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.

Primary Outcome Measure

Change in Children's Yale-Brown Obsessive Compulsive Scale Modified for Pervasive Developmental Disorders (CYBOCS-PDD) repetitive behaviors measure score [ Time Frame: Baseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18 ]

Central Contacts

• Masoud Salehi, M.D.
  443-857-9365
  [email protected]

Locations (1)

Find similar trials in Baltimore, MD

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