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

Launched by UNIVERSITY OF MINNESOTA · Oct 20, 2015

Keywords

ClinConnect Summary

This clinical trial is studying how oxidative stress and inflammation may affect individuals with Type 1 Gaucher Disease (GD1). Researchers want to compare the levels of certain chemicals in the blood and brain of healthy volunteers and those living with GD1. By understanding these levels, they hope to learn more about the disease and how it impacts the body.

To participate in this study, you need to be at least 18 years old and should be stable on a specific treatment for GD1 for at least 2 years. Healthy volunteers are also welcome, as long as they are matched in age with GD1 participants. Throughout the trial, participants will provide blood samples and undergo MRI scans to gather important information. It’s important to note that participants should not have taken certain supplements, like vitamin C or E, for three weeks before the study. If you're interested in learning more or think you might qualify, feel free to reach out for more details!

Gender

ALL

Eligibility criteria

• Inclusion 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.
• Exclusion Criteria:
• • 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.