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N-acetylcysteine for Mitochondrial Disease (m.3243A>G mutation)

This study is looking at N-acetylcysteine (NAC), an antioxidant, for people with mitochondrial disease who have the m.3243A>G genetic change and low brain glutathione levels. Glutathione is a natural chemical that helps repair brain cells. Researchers believe NAC might increase brain glutathione, potentially improving thinking and movement skills. You could be eligible if you are 18-80 years old, have the m.3243A>G mutation, and low brain glutathione. The study will test different daily doses of NAC (1800, 3600, or 5400 mg) to find the safest and most effective amount. The main goal is to determine the highest safe dose of NAC after 4 months.

Study design
This is an interventional study with 18 participants, testing different doses of N-acetylcysteine.
What's involved
Participants will take N-acetylcysteine daily for 3 months. The trial record does not specify other visits, procedures, or tests.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint for determining the maximum tolerated dose of NAC is measured at 4 months.

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NCT05241262

Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels

Recruiting
PHASE1Ages 18–80InterventionalTreatment
Michio Hirano, MD
~18 participants
Updated 2026-01-23 on ClinicalTrials.gov
What's tested:N-Acetylcysteine

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Maximum tolerated dose (MTD) of NAC
Measured over 4 months

Conditions

Mitochondrial Disease

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Where it's being run

1 sites across 1 states
New York1

Study leadership

  • Michio Hirano, MD · PRINCIPAL_INVESTIGATOR · Columbia University

Who to contact

Kris Engelstad, MS, CGC
[email protected]
212-342-5767
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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

What this trial measures

  • Maximum tolerated dose (MTD) of NAC4 months

    Establish maximum tolerated dose of NAC by initiating dosing at one level, then increasing or decreasing dose based on toxicity. The MTD is defined as the dose associated with a target probability of dose limiting toxicity (DLT) of 0.10.