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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 : November 22, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )

Brief Summary:

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

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Other
Time Perspective: Prospective
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 immune deficiency
patients referred by physician with a suspected inherited immune deficiency

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   1 Month and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients referred by physician with a suspected inherited immune deficiency and their unaffected relatives.

Patients known to have or suspected of having an inherited immune cell homeostasis, programmed cell death susceptibility syndrome, lymphocyte developmental block, or defective immune cell effector functions will be eligible for enrollment. We will enroll

patients with suspected disease if the investigator agrees that there is a high index of suspicion. Blood relatives of enrolled patients will be eligible for enrollment. There will be no limit as to age, sex, race or disability.


Severely debilitated health status or poor venous access may preclude obtaining adequate specimens for analysis. The minimum weight for infants on this protocol is 3 kg because of the limits of maximal acceptable blood draw volumes and minimum requirement for core laboratory tests would exceed the acceptable volume..

Information from the National Library of Medicine

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

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Contact: Helen F Matthews (301) 443-8080 matthewsh@mail.nih.gov
Contact: Michael J Lenardo, M.D. (301) 496-6754 mlenardo@mail.nih.gov

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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY dial 711    ccopr@nih.gov   
United States, Michigan
University of Michigan Recruiting
Ann Arbor, Michigan, United States, 48109-0624
Contact: Kelly Walkovich, M.D.    215-590-2204    kwalkovi@med.umich.edu   
Ankara Medical University Recruiting
Ankara, Turkey
Contact: Aydan Ikinciogullari    +903125956438    aydan@mac.com   
Gazi University Recruiting
Ankara, Turkey
Contact: Sinan Sari, MD    (031) 220-2414    drsinansari@gmail.com   
Hacettepe University Recruiting
Ankara, Turkey
Contact: Deniz Cagdaz, MD    +9031230511    dcagdas@gmail.com   
Marmara University Recruiting
Istanbul, Turkey
Contact: Ahmet Ozen, M.D.    +9021662554    ahmetozen_md@yahoo.com   
Necemttin Erbakan University Recruiting
Konya, Turkey
Contact: Sevgi Keles, M.D.    Not Listed    sevgi_keles@yahoo.com   
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
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Principal Investigator: Michael J Lenardo, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
Additional Information:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov Identifier: NCT00246857    
Other Study ID Numbers: 060015
First Posted: October 30, 2005    Key Record Dates
Last Update Posted: November 22, 2022
Last Verified: August 29, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: .If an individual requests to have their raw sequencing data, we have asked the IRB for permission. This has happened in one case. @@@@@@In another case during this reporting period, a subject asked us to share raw sequencing data with an academic center for analysis. This required a DTA which was recently completed.@@@@@@Sequencing is done under research conditions and is not shared with a subject unless it is verified with a repeat independent sample and CLIA certified.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
Inherited Lymphhocyte Homeostasis
Genetic Disease
Additional relevant MeSH terms:
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Genetic Diseases, Inborn
Primary Immunodeficiency Diseases
Immunologic Deficiency Syndromes
Immune System Diseases