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Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
A Multiple Ascending Phase 1 Dose Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
Who can join
Ages 18 to 80 · All sexes
Full eligibility criteria
Inclusion Criteria: * Ages 18-80 years * Low brain glutathione (GSH) levels as determined by magnetic resonance spectroscopic imaging (MRSI) * Individuals 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: * Individuals 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
About the study
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 participants will take either 1800, 3600 or 5400 mg per day of N-acetylcysteine (NAC) for 3 months in this dose escalation study. The investigators 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 additional participants will be treated with 5400 mg per day of NAC, for up to a total of 18 participants. 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.
What is being tested
- N-Acetylcysteine (drug)
Sponsor: Michio Hirano, MD · Participants: 18 · Started: Jul 6, 2023
Contact the study team
- Kris Engelstad, MS, CGC · Phone: 212-342-5767
Official record on ClinicalTrials.gov — NCT05241262
Locations in the U.S.
| New York | Columbia University Irving Medical Center, New York |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.