NCT02583672

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

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

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 33 (actual)
• Sponsor: University of Minnesota · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered by GD1.

Detailed description

The investigators will also examine if there is a change in these blood and brain chemicals in GD1 patients after receiving oral N-acetylcysteine ("NAC"), which is available both as a prescription medication and as a dietary-supplement product, that has antioxidant and anti-inflammatory effects. Any changes the investigators may find in chemical levels may improve our understanding of the disease and could eventually lead to better treatment options. This is a multi-center study of approximately 50 people with Type 1 Gaucher disease (GD1) and healthy volunteers. Healthy volunteers will have 3 study visits over the course of 3 months. Procedures will include review of medical history, blood draws at each visit, and an MRI scan at the third visit. GD1 patients will have 7 study visits over the course of 9 months. Procedures include review of medical history, blood draws at each visit (multiple draws from an IV catheter at Visit 6), neurological exams, pain and fatigue questionnaires, and MRI scans (at Visits 3 and 6). In addition, GD1 patients will be given oral NAC at Visit 3, to begin taking twice a day for 90 days. All MRI scans will be done at the University of Minnesota in Minneapolis.

Conditions

• Gaucher Disease Type 1

Interventions

Type	Name	Description
DRUG	N-acetylcysteine	1800mg NAC twice daily (3600mg/day) orally for approximately 90 days.

Timeline

• Start date: 2015-09-01
• Primary completion: 2025-12-31
• Completion: 2025-12-31
• First posted: 2015-10-22
• Last updated: 2026-02-18

Locations

2 sites across 1 country: United States

Regulatory

• FDA-regulated drug study