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N-Acetylcysteine for Cornelia de Lange Syndrome

Phase 2

Waitlist Available

Led By Marco A Grados, M.D., M.P.H.

Research Sponsored by Johns Hopkins University

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

A diagnosis of CdLS as determined by a physician meeting the major and minor criteria from CdLS guidelines

Ages 13 to 35 years

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18

Awards & highlights

Study Summary

This trial aims to see if NAC can help patients with Cornelia de Lange Syndrome by decreasing the occurrence of self-injurious behavior.

Who is the study for?

This trial is for individuals aged 13 to 35 with Cornelia de Lange Syndrome, exhibiting repetitive behaviors or self-injury. They must meet specific diagnostic criteria and be able to attend four visits over 18 weeks at Johns Hopkins Hospital. Pregnant or breastfeeding individuals, those with certain allergies, untreated gastric conditions, organ transplants, or on conflicting medications cannot participate.Check my eligibility

What is being tested?

The study tests N-Acetylcysteine (NAC), a neuroprotective agent that may reduce self-harm in patients with CdLS. Participants will randomly receive either NAC or a placebo for eight weeks each, separated by a two-week break to see if there's any change in their behavior.See study design

What are the potential side effects?

While not specified here, common side effects of NAC may include nausea, vomiting, rash and headache. As it's an antioxidant used in various conditions including acetaminophen overdose and lung issues like bronchitis; allergic reactions are possible but typically rare.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Select...

I have been diagnosed with Cornelia de Lange Syndrome (CdLS) by a doctor.

Select...

I am between 13 and 35 years old.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, week 2, week 4, week 6, week 8, week 10, week 12, week 14, week 16, week 18 for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Change in Aberrant Behavior Checklist (ABC) irritability self-injurious behaviors items score

Change in Children's Yale-Brown Obsessive Compulsive Scale Modified for Pervasive Developmental Disorders (CYBOCS-PDD) repetitive behaviors measure score

Secondary outcome measures

Change in Aberrant Behavior Checklist (ABC) irritability non-injurious behaviors items score

Change in Burden Scale for Family Caregivers score

Change in Childhood Autism Rating Scale (CARS2) score

+5 more

Side effects data

From 2022 Phase 2 trial • 44 Patients • NCT04005053

36%

Psychiatric

36%

Gastrointestinal

100%

80%

60%

40%

20%

Study treatment Arm

Low-Dose NAC

Placebo

High-Dose NAC

Trial Design

2Treatment groups

Experimental Treatment

Group I: Group B: Placebo then NAC 1800mgExperimental Treatment2 Interventions

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.

Group II: Group A: NAC 1800mg then PlaceboExperimental Treatment2 Interventions

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.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

N-acetyl cysteine

2016

Completed Phase 4

~990

0 / 2Eligibility criteria met

Find a Location

Who is running the clinical trial?

Johns Hopkins UniversityLead Sponsor

2,252 Previous Clinical Trials

14,817,654 Total Patients Enrolled

Cornelia de Lange Syndrome FoundationUNKNOWN

1 Previous Clinical Trials

20,000 Total Patients Enrolled

Marco A Grados, M.D., M.P.H.Principal InvestigatorDepartment of Psychiatry & Behavioral Sciences, Johns Hopkins School of Medicine

Media Library

N-acetyl cysteine (Other) Clinical Trial Eligibility Overview. Trial Name: NCT04381897 — Phase 2

Cornelia de Lange Syndrome Research Study Groups: Group A: NAC 1800mg then Placebo, Group B: Placebo then NAC 1800mg

Cornelia de Lange Syndrome Clinical Trial 2023: N-acetyl cysteine Highlights & Side Effects. Trial Name: NCT04381897 — Phase 2

N-acetyl cysteine (Other) 2023 Treatment Timeline for Medical Study. Trial Name: NCT04381897 — Phase 2

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Is it possible for me to become a participant in this clinical trial?

"This investigation is recruiting 10 participants who are between 13 and 35 years old and possess de Lange syndrome."

Answered by AI

Are there any available slots to join this clinical trial?

"According to the data at clinicaltrials.gov, this medical research is not currently pursuing any new participants - it was initially posted on January 1st 2023 and last edited on November 15th 2022. However, 1455 other studies remain open for enrollment presently."

Answered by AI

What are the primary goals of this investigative study?

"This investigation will be tracking Change in Children's Yale-Brown Obsessive Compulsive Scale Modified for Pervasive Developmental Disorders (CYBOCS-PDD) repetitive behaviours measure score across numerous time points, such as Baseline, week 2 and up to week 18. Secondary objectives include gauging the efficacy of the intervention with regards to scores from the Childhood Autism Rating Scale-Second Edition (CARS2), Vineland Adaptive Behavior Scale (VABS) and Aberrant Behavior Checklist’s irritability noninjurious behavior items sub-scale."

Answered by AI

Is this experiment open to elderly individuals?

"This medical trial has a minimum age requirement of 13 and an upper limit for enrollment of 35 years old."

Answered by AI

Are there any official regulatory permissions for the utilization of N-acetyl cysteine?

"N-acetyl cysteine is deemed to be of moderate safety, as evidenced by its score 2 on the scale. This result reflects that there is some data indicating its security but no evidence for effectiveness as it is a Phase 2 trial."

Answered by AI

Could you provide the aggregate number of participants in this clinical study?

"Unfortunately, this trial is not currently seeking participants. It was initially posted on January 1st 2023 and last updated November 15th 2022. However, there are 1431 clinical trials open for enrolment to people with de lange syndrome and 24 trials recruiting patients who will receive N-acetyl cysteine treatment."

Answered by AI

Recent research and studies

Biological PsychiatryJournal

A Randomized Controlled Pilot Trial of Oral N-acetylcysteine in Children with Autism

Hardan, Antonio Y., Lawrence K. Fung, Robin A. Libove, Tetyana V. Obukhanych, Surekha Nair, Leonore A. Herzenberg, Thomas W. Frazier, and Rabindra Tirouvanziam. 2012. “A Randomized Controlled Pilot Trial of Oral N-acetylcysteine in Children with Autism”. Biological Psychiatry. Elsevier BV. doi:10.1016/j.biopsych.2012.01.014.

clinicaltrials.govStudy

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

2024. "Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT04381897.