N-acetylcysteine for Gaucher Disease
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial is testing if a pill called NAC can help people with Type 1 Gaucher disease by reducing harmful processes in their bodies. The study includes both patients with the disease and healthy volunteers to compare results. Researchers hope this will lead to better treatments for the disease.
Will I have to stop taking my current medications?
The trial requires that Gaucher disease patients stay on their current enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) at a stable dose. However, you must stop taking antioxidants like coenzyme Q-10, vitamin C, or vitamin E for 3 weeks before and during the study.
How does the drug N-acetylcysteine differ from other treatments for Gaucher Disease?
N-acetylcysteine (NAC) is unique because it acts as an antioxidant, which may help reduce inflammation and oxidative stress, unlike standard treatments for Gaucher Disease that typically focus on enzyme replacement. NAC's potential benefits in other conditions, like lung diseases and pancreatitis, suggest it might offer novel therapeutic effects for Gaucher Disease.12345
Who Is on the Research Team?
Reena V. Kartha, PhD
Principal Investigator
University of Minnesota
Are You a Good Fit for This Trial?
This study is for adults over 18 with stable Type 1 Gaucher disease (GD1) who have been on consistent enzyme replacement or substrate reduction therapy for at least two years. Healthy volunteers matched by age can also join. Participants must not be pregnant, lactating, using certain antioxidants, or have conditions like asthma being treated currently.Inclusion Criteria
Exclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Treatment
GD1 patients receive oral N-acetylcysteine (NAC) for approximately 90 days, with multiple study visits for assessments and MRI scans.
Follow-up
Participants are monitored for changes in blood and brain chemical levels, including glutathione and myo-inositol, after treatment.
Extension
Potential continuation of monitoring for long-term changes in chemical levels in GD1 patients.
What Are the Treatments Tested in This Trial?
Interventions
- N-acetylcysteine
N-acetylcysteine is already approved in United States, European Union for the following indications:
- Acetaminophen overdose
- Chronic bronchitis
- Cystic fibrosis
- Mucolytic agent
- Paracetamol overdose
- Chronic bronchitis
- Cystic fibrosis
- Mucolytic agent
Find a Clinic Near You
Who Is Running the Clinical Trial?
University of Minnesota
Lead Sponsor
National Center for Advancing Translational Science (NCATS)
Collaborator
Rare Diseases Clinical Research Network
Collaborator
National Center for Advancing Translational Sciences (NCATS)
Collaborator
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Lysosomal Disease Network
Collaborator