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

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 9, 2017 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ) Identifier:
First received: October 29, 2005
Last updated: May 20, 2017
Last verified: May 9, 2017

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.

Primary Immune Deficiency

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Other
Official Title: Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • 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. ]

Estimated Enrollment: 5000
Study Start Date: October 26, 2005
Detailed Description:
This protocol is designed to screen patients with suspected or identified genetic diseases of lymphocyte homeostasis, reflecting abnormalities in programmed cell death, survival, 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 1000 patients and family members over the next 5 years.

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

Patients known to have or suspected of having an inherited lymphocyte homeostasis or programmed cell death susceptibility syndrome 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.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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 Patient Recruitment and Public Liaison Office (PRPL)    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)
  More Information

Additional Information:
Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID) Identifier: NCT00246857     History of Changes
Other Study ID Numbers: 060015
Study First Received: October 29, 2005
Last Updated: May 20, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Inherited Lymphhocyte Homeostasis
Genetic Disease

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Immune System Diseases processed this record on May 25, 2017