Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1
Status:
Recruiting
Trial end date:
2024-12-01
Target enrollment:
Participant gender:
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.