Investigation of Immune Disorders and Deficiencies

• Conditions: Hypogammaglobulinemia; Autoimmune Diseases; Inflammatory Diseases; Primary Immune Deficiencies; Common Variable Immune Deficiencies

• Registration Number: NCT01981785
• Lead Sponsor: O & O Alpan LLC

Brief Summary

The immune system is an intricate system comprised of specialized cells, proteins, tissues and organs. Proper functioning is critical to the body's ability to defend itself against harmful pathogens. Immunological disorders and deficiencies are defects in the immune system that lead to abnormal immune responses. Abnormal immune responses could be derived from immune deficiencies, dysregulations or hypersensitivities.

The overall goal of this research study is to identify the mechanisms of primary immune deficiencies and immune disorders at the genetic, cellular and molecular level, using novel analytic techniques to be performed on immune cells derived from blood samples. The knowledge gained from the aims of this study could lead to better diagnostics and identify novel targets for therapeutic interventions.

Detailed Description

Primary immunodeficiency diseases (PID) represent a class of disorders in which there is an instrinsic defect in the human immune system. The PID could be caused by defects or perturbations in either the innate or adaptive immune cells, such as B cell defects which result in lack of antibodies. Research in this topic remains a difficult feat due factors such as genetic heterogeneity and the gene-environment interface. Limitations of standard of care testing leads to many patients with immunological problems to be undiagnosed. In addition to the variety of primary immune deficiencies, there are large number of immune system disorders due to various perturbations in the immunological components that cause diseases with much greater prevalence such as autoimmune diseases, lymphoproliferative diseases, chronic inflammation and certain cancers. The causes of these immune disorders are typically more complex than PID but there are also many overlaps in immune hyper-activation and deficiency.

Study Timeline

• Study Start: 2012-12
• Study First Submitted: 2013-05-06
• Study First Submitted QC: 2013-11-05
• Study First Posted: 2013-11-13
• Status Verified: 2017-04
• Last Update Submitted: 2017-04-03
• Last Update Posted: 2017-04-04
• Primary Completion: 2018-12
• Study Completion: 2018-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 343

Inclusion Criteria

• Subject is greater than or equal to 1 day of age and less than or equal to 100years of age
• Signed Informed Consent/Assent
• Subject is able and willing to comply with study protocol requirements
• From clinical or blood laboratory findings subject has evidence of immune abnormalities (or no immune abnormalities in the case of controls) or immune-mediated disease.

Exclusion Criteria

• Risk factors for donating blood (such as anemia or blood clotting disorders)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetic variants	10 years	To elucidate genetic variants associated with various previously identified immune disorders to include but not limited to immune dysregulations, hypersensitivities, inflammatory conditions and deficiencies.

Secondary Outcome Measures

Name	Time	Method
Pathogenesis	10 years	To further elucidate pathogenesis of previously discovered immune disorders or subjects with suspected allergic/immunological disorders using cell surface and intracellular staining techniques using flow cytometry.

Trial Locations

Locations (1)

O&O Alpan LLC; 🇺🇸 Fairfax, Virginia, United States