Recruiting
Phase 1

N-Acetylcysteine

Sponsor:

Michio Hirano, MD

Code:

NCT05241262

Conditions

Mitochondrial Disease

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Interventions

N-Acetylcysteine

Study Details

Brief summary:

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

Mitochondrial Disease

Study ID

NCT05241262

Start date

Jul 6, 2023

Status verified date

Jan, 2026

Completion date

Mar, 2026

Anticipated

Primary completion date

Mar, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

18 participants

Anticipated

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: Active drug (NAC)

Participants will receive NAC for 3 months.

Interventions

N-Acetylcysteine

1800, 3600 or 5400 mg NAC per day (divided into 3 daily doses) depending on dose toxicity plan

Primary outcome measure

  • Maximum tolerated dose (MTD) of NAC [ Time Frame: 4 months ]

Central Contacts and Locations

Central contacts

Kris Engelstad, MS, CGC

212-342-5767ke4@cumc.columbia.edu

Locations

Columbia University Irving Medical Center

Recruiting

New York, New York, United States, 10032

Contacts

Kris Engelstad, MS, CGC

212-342-5767ke4@cumc.columbia.edu

Principal Investigator:

Michio Hirano, MD

More Information

Sponsor

Michio Hirano, MD

Last update posted

Jan 23, 2026

Last verified

Jan, 2026

Keywords

  • m.3243A>G
  • MELAS
  • diabetes
  • deafness

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Michio Hirano, MD on 2026-01-23.