Investigating oxidative stress and inflammation in Type 1 Gaucher Disease

Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications

This study is testing if taking an antioxidant called N-acetylcysteine can change levels of certain chemicals related to stress and inflammation in people with Type 1 Gaucher disease.

Quick facts

• Phase: PHASE2
• Study type: Interventional
• Enrollment: 50 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: University of Minnesota (other)
• Locations: 2 sites (Minneapolis, Minnesota and 1 other locations)
• Trial ID: NCT02583672 on ClinicalTrials.gov

What this trial studies

This study aims to measure blood and brain chemical levels related to oxidative stress and inflammation in individuals with Type 1 Gaucher disease (GD1) and healthy volunteers. It will assess whether these levels change in GD1 patients after receiving oral N-acetylcysteine (NAC), an antioxidant and anti-inflammatory agent. The study involves approximately 50 participants, with GD1 patients undergoing multiple visits over 9 months, including blood draws, neurological exams, and MRI scans. Healthy volunteers will participate in 3 visits over 3 months, with similar procedures. The goal is to enhance understanding of GD1 and potentially improve treatment options.

Who should consider this trial

Good fit: Ideal candidates include adults aged 18 and older with medically stable Type 1 Gaucher disease who have been on stable enzyme replacement therapy or substrate reduction therapy for at least 2 years.

Not a fit: Patients who are not medically stable or have recently changed their therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better treatment strategies for patients with Type 1 Gaucher disease.

How similar studies have performed: While this approach is novel in the context of Type 1 Gaucher disease, similar studies have shown promise in other conditions involving oxidative stress and inflammation.

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.

Where this trial is running

Minneapolis, Minnesota and 1 other locations

• University of Minnesota — Minneapolis, Minnesota, United States (RECRUITING)
• New York University — New York, New York, United States (RECRUITING)

Study contacts

• Principal investigator: Reena V. Kartha, PharmD — University of Minnesota
• Study coordinator: Reena V. Kartha, Ph.D.

Conditions: Gaucher Disease Type 1, Gaucher Disease, GD1, N-acetylcysteine, glutathione, GSH