Exploration of Immunity in Gaucher Disease

NCT01358188 | Completed

• 1 other identifier: 10-CFCT-01
• Study Type: observational
• Target: 33
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Gaucher disease; immunity; inflammation; macrophage activation

Outcome Measures

Primary Outcomes (1)

• Macrophages from patients with GD and primary immune hypo/dysfunction will show higher level of activation markers.

  The effect of macrophage activation on inflammation and immune response in subjects GD: As measured by 1) The secretion of proinflammatory cytokines/chemokines ( IL-1b, TNF, IL-6 and Mip1a ) 2) The ability of macrophages to shape the differentiation profile of naïve and memory T cells.

  2 years

Study Arms (2)

Gaucher disease group

Subjects will include individuals with GD

Control group

Controls will include healthy individuals and individuals with primary immune dysfunction

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study population will include individuals with Gaucher disease, healthy controls and individuals with primary immune dysfunction

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

Sponsors & Collaborators

• O & O Alpan LLC: lead

Study Sites (1)

Lysosomal Diseases Research and Treatment Center, CFCT

Fairfax, Virginia, 22030, United States

Location

Related Publications (1)

• Goker-Alpan O. Optimal therapy in Gaucher disease. Ther Clin Risk Manag. 2010 Jul 21;6:315-23. doi: 10.2147/tcrm.s6955.

  PMID: 20668714 BACKGROUND

Related Links

• O\&O Alpan LLC

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood

MeSH Terms

Conditions

Gaucher Disease; Inflammation

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Ozlem Goker-Alpan, M.D.

  Center for Clinical Trials, O&O Alpan

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief Medical Officer

Study Record Dates

• First Submitted: May 6, 2011
• First Posted: May 23, 2011
• Study Start: April 1, 2011
• Primary Completion: May 2, 2016
• Study Completion: May 2, 2016
• Last Updated: April 4, 2017

Record last verified: 2017-04

Locations

US (1)