Status:

RECRUITING

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

Lead Sponsor:

Michio Hirano, MD

Collaborating Sponsors:

United States Department of Defense

Conditions:

Mitochondrial Disease

Eligibility:

All Genders

18-80 years

Phase:

PHASE1

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 t...

Detailed Description

Patients with the m.3243A\>G mitochondrial mutation often have low brain glutathione levels. These low levels can reduce the repair processes in the brain to fix toxic chemicals that result from a mit...

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

Key Trial Info

Start Date :

July 6 2023

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

April 1 2025

Estimated Enrollment :

18 Patients enrolled

Trial Details

Trial ID

NCT05241262

Start Date

July 6 2023

End Date

April 1 2025

Last Update

September 19 2024

Active Locations (1)

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Page 1 of 1 (1 locations)

1

Columbia University Irving Medical Center

New York, New York, United States, 10032