NCT00246857 Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
| NCT ID | NCT00246857 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Institute of Allergy and Infectious Diseases (NIAID) |
| Condition | Primary Immune Deficiency |
| Study Type | OBSERVATIONAL |
| Enrollment | 5,000 participants |
| Start Date | 2007-02-12 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 5,000 participants in total. It began in 2007-02-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
* 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.
Contact & Investigator
Helen C Su, M.D.
PRINCIPAL INVESTIGATOR
National Institute of Allergy and Infectious Diseases (NIAID)
Frequently Asked Questions
Who can join the NCT00246857 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 100 Years, studying Primary Immune Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00246857 currently recruiting?
Yes, NCT00246857 is actively recruiting participants. Contact the research team at hsu@mail.nih.gov for enrollment information.
Where is the NCT00246857 trial being conducted?
This trial is being conducted at Bethesda, United States, Ann Arbor, United States, Ankara, Turkey (Türkiye), Ankara, Turkey (Türkiye) and 3 additional locations.
Who is sponsoring the NCT00246857 clinical trial?
NCT00246857 is sponsored by National Institute of Allergy and Infectious Diseases (NIAID). The principal investigator is Helen C Su, M.D. at National Institute of Allergy and Infectious Diseases (NIAID). The trial plans to enroll 5,000 participants.