CompletedPhase 2

Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1

United States25 participantsStarted 2021-02-23

Plain-language summary

Children with neurofibromatosis type 1 (NF1) commonly suffer from the effects of cognitive, behavioral, and motor impairments. At present, there is no specific treatment for this NF1 complication. In this project, the investigators will assess the safety and clinical benefit of N-acetylcysteine (NAC) as a pharmacological intervention in children with NF1. This drug choice is based on the recent findings from mouse models to study the central nervous system manifestations of NF1 at Cincinnati Children's Hospital Medical Center (CCHMC). These findings revealed a role for myelin-forming oligodendrocytes in the control of nitric oxide synthases (NOS) and their product, nitric oxide (NO), in maintenance of brain structure and function, including regulation of behavior and motor control. Treating these mice with NAC corrected cellular and behavioral abnormalities. This data from animal models of NF1 along with uncontrolled clinical observations in children with NF1 suggest that the antioxidant compound, NAC, may reduce these impairments. Therefore, the investigators propose performing a single center double-blind placebo controlled, prospective, Phase II study to explore safety, tolerability, and efficacy of NAC on motor behavior and/or learning in children with NF1 aged 8 through 16 years old. Participants will be carefully monitored for side effects. Primary and secondary outcome measures will be administered at baseline, follow-up, and post-treatment.

Who can participate

Age range

8 Years – 16 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Males and females older than 8 years and younger than 16 years old
. Has a diagnosis of NF1 (neurofibromatosis type 1)
. Has an abnormal PANESS score
. Has an intelligence quotient (IQ) at or above 70
. Participants on stimulant or any other psychotropic medication should stay on a stable dose (no change in dose) for at least 30 days before entering the study and maintain that dose while in the study

Exclusion criteria

. Younger than 8 years or older than 16 years ѱ

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1This trial used N-acetylcysteine as an antioxidant therapy for children with NF1 — has it been completed long enough that my doctor has seen or can access any results, and what did those results suggest about whether it actually improved motor function?
2The trial measured changes in motor function using something called the PANESS exam — is that type of physical and neurological assessment something my child has already had done, and how does their current motor function compare to what this trial was looking at?
3Since this is a Phase 2 trial that's now completed, what does my doctor think that means about how much we know regarding the safety and effectiveness of N-acetylcysteine for NF1 in children — is there enough evidence to consider it, or are there still too many unknowns?
4N-acetylcysteine is sometimes available outside of a clinical trial — given that this study is finished, is there any reason my doctor would or wouldn't consider NAC as part of my child's current treatment plan based on what's been learned?
5Are there other ongoing or upcoming trials for NF1 that built on what this study was trying to do, or does my doctor think a standard treatment path makes more sense right now given where the research stands?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change From Baseline in Motor Function Measured by Physical and Neurological Examination for Soft Signs (PANESS)

Timeframe: Baseline vs. end of treatment, 8 weeks

Trial details

NCT IDNCT04481048

SponsorChildren's Hospital Medical Center, Cincinnati

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2024-06-25

Results submitted2025-07-15

View on ClinicalTrials.gov More Neurofibromatosis 1 trials