Exploration of Immunity in Gaucher Disease

Completed

Conditions studied: Gaucher Disease

In brief

Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase is characterized with accumulation of abnormal lipid in cells of the immune system, called macrophages. Lipid engorged macrophages, then become activated, and are also called "Gaucher cells". The mechanisms leading to macrophage activation is not fully known, however several findings in individuals with GD, such as non-specific inflammation,clinically resembling a rheumatic disease with an increased sedimentation rate, joint pain, and extreme fatigue, in addition poor wound healing, and a predisposition to diabetes may suggest an inappropriately functioning immune system in GD. The pathways leading to macrophage activation could be related to the accumulation of lipid metabolites or through the effects of other immune cells. In this study, immunologic profiling and functional assays will be performed in peripheral blood samples from patients with GD. The identification of the immunologic basis of GD will lead to the the development of new disease markers and different treatment options.

Key facts

Study ID

NCT01358188

Run by

O & O Alpan LLC

People needed

33

Starts

2011-04-01

Expected to finish

2016-05-02

Last updated by the study team

2017-04-04

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• History of Gaucher disease
• Nonspecific inflammatory response evidenced by an increased ESR or positive CRP
• Positive markers for autoimmune disorders such as ANA, RF
• Chronic inflammatory disorders such as inflammatory bowel disease
• NIDDM
• Otherwise would qualify for an immunological work-up such as opportunistic or unusual infections such as atypical mycobacterial infections, unexplained lymphadenopathy.

You may not qualify if…

• Severe cognitive deficits impairing decision making
• Pregnant or nursing, as these conditions may alter immunologic profile
• History of Hepatitis B, C or HIV infections

Where it is running

• Lysosomal Diseases Research and Treatment Center, CFCT — Fairfax, Virginia, United States

Full record on ClinicalTrials.gov

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