Using N-acetylcysteine to treat patients with a specific mitochondrial mutation and low brain glutathione levels
Official title: 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
Run by Columbia University · NCT05241262 · Data updated 2026-11-12
This study is testing if different doses of N-acetylcysteine can help improve brain function in people with a specific mitochondrial mutation and low levels of a brain chemical called glutathione.
Quick facts
| Phase | Phase 1 |
|---|---|
| Study type | Interventional |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Enrollment | 18 (estimated) |
| Sponsor | Columbia University Academic / other |
| Locations | 1 site (New York, New York) |
| Status | Recruiting |
| Started | July 6, 2023 |
| Main results expected | March 2026 |
| Study ends | March 2026 |
| Registry record updated | January 23, 2026 |
| Trial ID | NCT05241262 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are adults aged 18-80 with low brain glutathione levels and confirmed m.3243A>G mitochondrial mutation.
✕Probably not a fit
Patients with normal brain glutathione levels or those who are pregnant or lactating may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This clinical trial investigates the effects of N-Acetylcysteine (NAC), an antioxidant, on brain glutathione levels in patients with the m.3243A>G mitochondrial mutation. Participants will receive varying doses of NAC (1800, 3600, or 5400 mg per day) over three months to assess safety and potential efficacy. The study aims to determine the optimal dose that may improve cognitive and motor skills by reducing toxic levels in the brain. Data collected will inform future trials on the effectiveness of NAC for this patient population.
Why it matters
Potential benefit: If successful, this treatment could enhance cognitive and motor skills in patients with mitochondrial disease by improving brain glutathione levels.
How similar studies have gone: While the use of NAC has been explored in other contexts, this specific application for the m.3243A>G mutation is novel and has not been extensively tested.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Columbia University Irving Medical Center
New York, New York, United States Recruiting
Study contacts
- Principal investigator: Michio Hirano, MD — Columbia University
- Study coordinator: Kris Engelstad, MS, CGC
- Email: ke4@cumc.columbia.edu
- Phone: 212-342-5767
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.