This trial is active, not recruiting.

Conditions primary immune deficiencies, autoimmune diseases, inflammatory diseases, common variable immune deficiencies, hypogammaglobulinemia
Sponsor O & O Alpan LLC
Start date December 2012
End date December 2018
Trial size 343 participants
Trial identifier NCT01981785, 12-CFCT-04


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model case-control
Time perspective prospective
Patients with abnormal immune responses or potential primary immune deficiencies or immune disorders (allergies, autoimmune diseases) will be enrolled as the study group.
Patients with no prior immune abnormalities will be enrolled as the control group.

Primary Outcomes

Genetic variants
time frame: 10 years

Secondary Outcomes

time frame: 10 years

Eligibility Criteria

All participants of any age.

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)

Additional Information

Official title Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies
Principal investigator Oral Alpan, MD
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.
Trial information was received from ClinicalTrials.gov and was last updated in April 2017.
Information provided to ClinicalTrials.gov by O & O Alpan LLC.