Using N-acetylcysteine to treat patients with a specific mitochondrial 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
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 |
| Enrollment | 18 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT05241262 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18-80 with low brain glutathione levels and confirmed m.3243A>G mitochondrial mutation.
Not a fit: Patients with normal brain glutathione levels or those who are pregnant or lactating may not benefit from this study.
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 performed: 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.
Eligibility criteria
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 this trial is running
New York, New York
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.