Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)

Eligibility Criteria

• 1. All participants must be 18 years or older.
• 2. All participants must understand and cooperate with requirements of the study in the opinion of the investigators and must be able to provide written informed consent.
• 3. Individuals with GD1 who are medically stable for participation in the study in the opinion of the investigator.
• 4. GD1 patients must be on a stable, specific ERT and/or SRT therapy at a specific dose (e.g. on a units/kg basis) for at least 2 years.
• 5. GD1 patients who have had a change in therapy, i.e. a change in dose or switch from one drug to another, can be enrolled after at least 6 months have elapsed since the change and is considered stable in the opinion of the clinician providing care to the patient.
• 6. Healthy subjects who will be frequency-matched for age.
• 7. All participants must not have taken antioxidants coenzyme Q-10, vitamin C, or vitamin E for 3 weeks prior to the study and during the course of the study.
• 1. Medically unstable conditions in any group as determined by the investigators.
• 2. Concurrent disease; medical condition; or an extenuating circumstance that, in the opinion of the investigator, might compromise subject safety, study compliance, completion of the study, or the integrity of the data collected for the study.
• 3. Women who are pregnant or lactating or of child-bearing age who are not using acceptable forms of contraception.
• 4. History of asthma that is presently being treated.
• 5. Patients enrolled in another interventional study.
• 6. Allergy to N-acetylcysteine.
• 7. Patients who cannot or are unwilling to have blood drawn.
• 8. Inability to undergo MRI scanning, including but not limited to: unable to remain still in an MRI scanner for more than 30 minutes, claustrophobia, presence of paramagnetic substances or pacemakers in body, weight over 300 lbs.
• 9. Unable to adhere to study protocol for whatever reason.