Actively Recruiting
Study of N-acetylcysteine for Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
Led by Michio Hirano, MD · Updated on 2026-01-23
18
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
M
Michio Hirano, MD
Lead Sponsor
U
United States Department of Defense
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying the effects of N-Acetylcysteine (NAC), an antioxidant, on patients with the m.3243A>G mitochondrial mutation who often have low brain glutathione levels. This condition may impair the brain's ability to repair damage caused by toxic chemicals related to the mitochondrial disorder. The study aims to assess how NAC affects brain glutathione levels, cognitive skills, motor skills, and overall quality of life. Participants will receive NAC in a dose escalation format, starting with 18 individuals taking either 1800, 3600, or 5400 mg per day, divided into three daily doses, over three months. The study will first determine if the 3600 mg dose is safe and shows potential effectiveness. If it is safe, further participants will receive 5400 mg per day; if not, the lower 1800 mg dose will be used. This pilot study helps identify the safest and most effective NAC dose for future trials. During the study, participants will be monitored over four months to assess the maximum tolerated dose of NAC, changes in neurological and cognitive function, motor capacity using a 6-minute walk test, performance scale scores, and brain glutathione levels. Researchers will use magnetic resonance spectroscopic imaging (MRSI) and various clinical assessments to evaluate these outcomes, ensuring close observation of safety and treatment effects throughout the trial.
CONDITIONS
Brief Title
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Ages 18 to 80 years
- Low brain glutathione levels confirmed by magnetic resonance spectroscopic imaging (MRSI)
- Carriers or suspected carriers of the m.3243A>G mitochondrial mutation with genetic confirmation before starting NAC
You will not qualify if you...
- Normal brain glutathione levels
- Pregnant or lactating individuals
- Medically unstable as determined by the Principal Investigator
- Allergy to NAC or other sulfur-containing drugs
- Inability to follow the study protocol
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - 3 months
Participants receive N-Acetylcysteine (NAC) at doses of 1800, 3600 or 5400 mg per day divided into 3 daily doses to improve brain glutathione levels and cognitive and motor skills.
Trial Site Locations
Total: 1 location
1
Columbia University Irving Medical Center
New York, New York, United States, 10032
Actively Recruiting
Research Team
K
Kris Engelstad, MS, CGC
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here