Enroll in the LDN’s Gaucher Disease Research Study

Study Locations: University of Minnesota in the Twin Cities; and New York University in New York City.

The search is on for Gaucher disease patients who fit the eligibility criteria for the Lysosomal Disease Network’s ongoing research study entitled “Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications.” (The Rare Diseases Clinical Research Network will make every effort to enroll all the patients it can, but it cannot make any guarantees that it will be able to enroll everyone in a particular study who wants to participate.) Many details about this study can be found at ClinicalTrials.gov under its study number NCT02583672.

Briefly, the purpose of this study is to measure blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with type 1 Gaucher disease (“GD1”). The investigators want to learn if these levels are abnormal in patients with GD1. They will also examine if there is a change in these blood and brain chemicals in GD1 patients after treatment with orally-administered N-acetylcysteine (“NAC”). NAC is available both as a prescription medication and as a “natural supplement” product in some retail markets. NAC has antioxidant and anti-inflammatory effects, and has been used for many years for the treatment of lung diseases, such as chronic obstructive pulmonary disease, and cystic fibrosis. The findings from this study may add to our understanding of how Gaucher disease causes tissue damage, and may lead to better treatment options for GD1.

The principal investigator of this study is Reena Kartha, PhD, located at the University of Minnesota in the Twin Cities. To see if you may be eligible to participate, first read the entry at ClinicalTrials.gov, and after that, you may e-mail your questions to Dr. Kartha at the University of Minnesota. Thank you for your time and consideration!