Actively Recruiting

Phase 1
Age: 18Years - 80Years
All Genders
NCT05241262

Study of N-acetylcysteine in the Treatment of 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

138 weeks

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

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. 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.

CONDITIONS

Official Title

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

Who Can Participate

Age: 18Years - 80Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Ages 18-80 years
  • Low brain glutathione levels confirmed by magnetic resonance spectroscopic imaging (MRSI)
  • Individuals who carry or are suspected to carry the m.3243A>G mitochondrial mutation (genetic confirmation required before starting NAC)
Not Eligible

You will not qualify if you...

  • 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 drugs
  • Inability to adhere to study protocol

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Columbia University Irving Medical Center

New York, New York, United States, 10032

Actively Recruiting

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Research Team

K

Kris Engelstad, MS, CGC

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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