Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
- Conditions
- Primary Immune Deficiency
- Registration Number
- NCT00246857
- 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.
...
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 5000
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (7)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States
Ankara Medical University
🇹🇷Ankara, Turkey
Gazi University
🇹🇷Ankara, Turkey
Hacettepe University
🇹🇷Ankara, Turkey
Necemttin Erbakan University
🇹🇷Konya, Turkey
Marmara University
🇹🇷Istanbul, Turkey
University of Michigan
🇺🇸Ann Arbor, Michigan, United States