N-acetylcysteine and brain glutathione in m.3243A>G mitochondrial disease
Tests N-acetylcysteine doses in people with m.3243A>G mitochondrial disease.
Key facts
- Who runs it
- Michio Hirano, MD
- Where
- New York, United StatesSee the site
- Trial code
- Registry title
- Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
- Status
- Recruiting
- Phase
- Phase 1
- People taking part
- 18 people, planned
- Started
- 6 Jul 2023
- Planned end
- Mar 2026
- Type of study
- Interventional
- Treatments tested
- N-Acetylcysteine
- Record updated
- 23 January 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for adults who carry the m.3243A>G mitochondrial mutation and have low brain glutathione (GSH) levels. They will take N-acetylcysteine (NAC) for 3 months.
- Age
- 18 to 80 years
- Sex
- All sexes
- Disease stage
- Mitochondrial disease linked to the m.3243A>G mutation.
- Biomarker or test result
- The m.3243A>G mitochondrial mutation, confirmed by a gene test before NAC starts. People suspected of carrying it can join, but the test must confirm it. Low brain glutathione (GSH) levels on a special brain scan (magnetic resonance spectroscopic imaging, MRSI).
Main reasons for not taking part
- Normal brain glutathione levels
- Pregnant or breastfeeding
- Health not stable, as judged by the lead doctor
- Allergy to NAC or other sulfur-containing drugs
- Not able to follow the study plan
The registry criteria, word for word
Show all 8 criteriaShow less
Who can take part
- 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)
Who cannot take part
- Allergy to NAC or other sulfur-containing drug
- Individuals with normal brain glutathione levels
- Pregnant or lactating individuals
- Medically unstable as determined by the Principal Investigator
- Inability to adhere to study protocol
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 18 and 80 years old?
Where in United States
- Columbia University Irving Medical CenterNew York, United StatesContact: Kris Engelstad, MS, CGCTaking people
About the trial
What the trial wants to find out
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.
Read full original descriptionShow less
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.
The group in the trial
- Active drug (NAC)Treatment being tested
Participants will receive NAC for 3 months.
Treatment: N-Acetylcysteine
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- 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
- Plain-language title
- N-acetylcysteine and brain glutathione in m.3243A>G mitochondrial diseaseGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 14 November 2026.
- Fit questions
- Built from NCT05241262, who can take part
- Record updated
- 23 January 2026