RecruitingPhase 1NCT05241262

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

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

Sponsor

Michio Hirano, MD

Enrollment

18 participants

Start Date

Jul 6, 2023

Study Type

INTERVENTIONAL

Conditions

Mitochondrial disease

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.

Eligibility

Min Age: 18 YearsMax Age: 80 Years

Plain Language Summary

Simplified for easier understanding

This study tests whether N-acetylcysteine (NAC) — an antioxidant supplement available in clinical doses — can raise glutathione (a protective antioxidant) levels in the brains of people with a specific mitochondrial DNA mutation called m.3243A>G. This mutation causes a condition called MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and low brain glutathione may worsen neurological damage. You may be eligible if: - You are between 18 and 80 years old - You carry or are suspected to carry the m.3243A>G mitochondrial mutation (genetic confirmation required before starting the treatment) - Your brain glutathione levels are low, as measured by a special MRI technique (MRSI) You may NOT be eligible if: - Your brain glutathione levels are normal - You are pregnant or breastfeeding - You are medically unstable - You have an allergy to NAC or sulfur-containing drugs - You are unable to follow the study protocol Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

Interested in this trial?

Get notified about updates and connect with the research team.