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

Sponsor
National Institute of Allergy and Infectious Diseases (NIAID) (NIH)
Overall Status
Recruiting
CT.gov ID
NCT00246857
Collaborator
(none)
5,000
6
833.3

Study Details

Study Description

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 Intervention/Treatment Phase

    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.

    Study Design

    Study Type:
    Observational
    Anticipated 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 :
    Feb 12, 2007

    Arms and Interventions

    Arm Intervention/Treatment
    patients referred by physician with a suspected inherited immune deficiency

    patients referred by physician with a suspected inherited immune deficiency

    Outcome Measures

    Primary Outcome Measures

    1. determination of underlying susceptibility trait(s) and elucidation of its mechanism of action [2030]

      Goal of this study is to determine the molecular, genetic, biochemical basis for an immune problem.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    1 Month and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    • INCLUSION CRITERIA:

    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.

    EXCLUSION CRITERIA:

    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..

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 University of Michigan Ann Arbor Michigan United States 48109-0624
    2 Ankara Medical University Ankara Turkey
    3 Gazi University Ankara Turkey
    4 Hacettepe University Ankara Turkey
    5 Marmara University Istanbul Turkey
    6 Necemttin Erbakan University Konya Turkey

    Sponsors and Collaborators

    • National Institute of Allergy and Infectious Diseases (NIAID)

    Investigators

    • Principal Investigator: Michael J Lenardo, M.D., National Institute of Allergy and Infectious Diseases (NIAID)

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    Responsible Party:
    National Institute of Allergy and Infectious Diseases (NIAID)
    ClinicalTrials.gov Identifier:
    NCT00246857
    Other Study ID Numbers:
    • 060015
    • 06-I-0015
    First Posted:
    Oct 30, 2005
    Last Update Posted:
    Aug 12, 2022
    Last Verified:
    May 26, 2022
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by National Institute of Allergy and Infectious Diseases (NIAID)
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Aug 12, 2022