Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00246857
Recruitment Status : Recruiting
First Posted : October 31, 2005
Last Update Posted : January 15, 2019
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 specimens from such 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 appropriate NIH protocols for additional clinical evaluation and treatment. The study will enroll up to 5000 patients and family members over the next 10 years.

Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Study Start Date : October 26, 2005

Primary Outcome Measures :
  1. Objectives: We propose to evaluate patients who may have, or are suspected of having, inherited diseases of lymphocyte homeostasis and programmed cell death. Caspase-8-deficient patients illustrate the dual overlapping roles of certain molecules... [ Time Frame: This study is ongoing. It is not a treatment study, and there are no outcome measures, other than ultimate goals of identifying causative genes, validating genotype phenotype and contributing to the literature, as well as develop potential therapies. ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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. In the latter case, because of the intensive time and labor required for research laboratory testing, patients will be enrolled only if in the opinion of the investigator 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.


The presence of an acquired abnormality, such as HIV, cytotoxic chemotherapy, or malignancy may be grounds for possible exclusion if, in the opinion of the investigator, the presence of such a disease process interfered with evaluation.

Severely debilitated health status or poor venous access may also preclude obtaining adequate specimens for analysis.

Within the limits of maximal acceptable blood draw volumes and minimum requirement for core laboratory tests (9 ml of blood for V.A.2a and b), the cutoff weight for infants permitted in this protocol is 3 kg and above.

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 identifier (NCT number): NCT00246857

Contact: Helen F Matthews (301) 443-8080
Contact: Michael J Lenardo, M.D. (301) 496-6754

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike 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 TTY8664111010   
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229-3039
Hacettepe University Recruiting
Ankara, Turkey
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Principal Investigator: Michael J Lenardo, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Additional Information:
Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID) Identifier: NCT00246857     History of Changes
Other Study ID Numbers: 060015
First Posted: October 31, 2005    Key Record Dates
Last Update Posted: January 15, 2019
Last Verified: January 11, 2019

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:
Genetic Diseases, Inborn
Immunologic Deficiency Syndromes
Immune System Diseases