Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels

  • End date
    Jun 1, 2024
  • participants needed
  • sponsor
    Darryl C. De Vivo, MD
Updated on 8 June 2022


N-Acetylcysteine (NAC), an anti-oxidant, will be studied to investigate the effects on brain glutathione levels, cognitive skills, motor skills, and quality of life.
A group of 18 patients will take either 1800, 3600 or 5400 mg per day of NAC (for 3 months) for a dose escalation study; this means that we want to determine first if the 3600 mg dose per day is safe and might provide some efficacy. If the 3600 mg dose is safe, then we will treat additional patients with 5400 mg per day of NAC up to a total of 18 patients. If the 3600 mg per day dose is unsafe, then participants will be treated with the 1800 mg per day dose. Data from this pilot study will be used to determine the most safe and effective dose of NAC for a future clinical trial.


Patients with the m.3243A>G mitochondrial mutation often have low brain glutathione levels. These low levels can reduce the repair processes in the brain to fix toxic chemicals that result from a mitochondrial disorder. The investigators are aware of a potent anti-oxidant, called N-Acetylcysteine (NAC), that may improve the brain glutathione level when taken in sufficient quantity. In turn, cognitive and motor skill impairment may improve as these toxic levels are reduced. will be studied to investigate the effects on brain glutathione levels, cognitive skills, motor skills, and quality of life.

Condition mitochondrial disorder, m.3243A>G Mutation Carrier and Low Brain Glutathione Levels
Treatment N-acetylcysteine
Clinical Study IdentifierNCT05241262
SponsorDarryl C. De Vivo, MD
Last Modified on8 June 2022


Yes No Not Sure

Inclusion Criteria

Ages 18-80 years
Low brain glutathione (GSH) levels as determined by magnetic resonance spectroscopic imaging (MRSI)
Patients who carry, or are suspected of carrying the m.3243A>G mitochondrial mutation (genetic confirmation of mutation required prior to initiation of NAC)

Exclusion Criteria

Patients with normal brain glutathione levels
Pregnant or lactating individuals
Medically unstable as determined by the Principal Investigator
Allergy to NAC or other sulfur-containing drug
Inability to adhere to study protocol
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