Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
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|ClinicalTrials.gov Identifier: NCT00246857|
Recruitment Status : Recruiting
First Posted : October 30, 2005
Last Update Posted : October 22, 2021
This study will determine the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis. Lymphocytes are a type of white blood cell that fights infections. Normally, the body keeps a precise balance in which lymphocyte growth is matched by lymphocyte death. People with constantly enlarged lymph nodes or spleen, along with autoimmune disease, immunodeficiency, lymphoma, or other immune problems affecting lymphocytes may have an abnormality of the immune system in the cell growth and cell death processes that regulate lymphocyte homeostasis.
Patients who have, or are suspected of having, an inherited lymphocyte homeostasis or programmed cell death susceptibility syndrome may be eligible for this study. Relatives of patients are also included.
Participants' (patients and relatives) medical records are reviewed and blood samples are drawn for studies to identify genes involved in immune disorders. Tissues that have been removed from patients for medical reasons, such as biopsied tissues, may be examined for tissue and DNA studies. Relatives are studied to determine if some of them may have a very mild form of lymphocyte homeostasis disorder.
Patients who have an immune problem that the researchers wish to study further will be invited to donate additional blood samples at irregular intervals (at least once a year) and to provide an update of their medical records at the same time.
|Condition or disease|
|Primary Immune Deficiency|
This protocol is designed to screen patients with suspected or identified genetic diseases of immune cell homeostasis, reflecting abnormalities in programmed cell death, survival, development, activation, and/or proliferation. Patients determined by clinical history and initial outside evaluation by their referring physician to be of interest will be consented and enrolled into this study. Blood and other biological specimens from patients or their family members will be obtained for research studies related to understanding the genetic and biochemical bases of these diseases. Outside medical records will be obtained for chart review to correlate clinical history to research laboratory testing results. Results will be relayed to the referring physicians and, where applicable, patients will be referred to other relevant research studies at the NIH.
The study will enroll up to 5000 patients and family members over the next 10 years.
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death|
|Actual Study Start Date :||February 12, 2007|
patients referred by physician with a suspected inherited immu
patients referred by physician with a suspected inherited immune deficiency
- determination of underlying susceptibility trait(s) and elucidation of its mechanism of action [ Time Frame: 2030 ]Goal of this study is to determine the molecular, genetic, biochemical basis for an immune problem.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00246857
|Contact: Helen F Matthews||(301) firstname.lastname@example.org|
|Contact: Michael J Lenardo, M.D.||(301) email@example.com|
|United States, Michigan|
|University of Michigan||Recruiting|
|Ann Arbor, Michigan, United States, 48109-0624|
|Contact: Kelly Walkovich, M.D. 734-936-9814 firstname.lastname@example.org|
|United States, Ohio|
|Cincinnati Children's Hospital Medical Center||Recruiting|
|Cincinnati, Ohio, United States, 45229-3039|
|Contact: Rebecca Marsh 513-803-1139 email@example.com|
|Ankara Medical University||Recruiting|
|Contact: Aydan Ikinciogullari +903125956438 firstname.lastname@example.org|
|Gazi University Faculty of Medicine||Recruiting|
|Contact: Sinan Sari, M.D. 03122024148 email@example.com|
|Contact: Deniz Cagdaz +903123051080 firstname.lastname@example.org|
|Contact: Ahmet Ozen, M.D. +90216625454 email@example.com|
|Necmettin Erkaban University||Recruiting|
|Contact: Sevgi Keles, M.D. 905396900283 firstname.lastname@example.org|
|Principal Investigator:||Michael J Lenardo, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|