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Exploration of Immunity in Gaucher Disease

NCT01358188 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 33

Last updated 2017-04-04

No results posted yet for this study

Summary

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.

Conditions

  • Gaucher Disease

Sponsors & Collaborators

  • O & O Alpan LLC

    lead OTHER

Principal Investigators

  • Ozlem Goker-Alpan, M.D. · Center for Clinical Trials, O&O Alpan

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2011-04-30
Primary Completion
2016-05-02
Completion
2016-05-02

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01358188 on ClinicalTrials.gov