Overview

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

Status:
Recruiting

Trial end date:
2024-06-01

Target enrollment:
0

Participant gender:
All

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 patients will take either 1800, 3600 or 5400 mg per day of NAC (for 3 months) for a dose escalation study; this means that we 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 we will treat additional patients with 5400 mg per day of NAC up to a total of 18 patients. 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.

Phase:

Phase 1

Accepts Healthy Volunteers?

Details

Lead Sponsor:

Darryl C. De Vivo, MD

Treatments:

Acetylcysteine
N-monoacetylcystine

Criteria

Inclusion Criteria:

- Ages 18-80 years

- Low brain glutathione (GSH) levels as determined by magnetic resonance spectroscopic
imaging (MRSI)

- Patients 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:

- Patients 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