Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
|First Received Date ICMJE||October 29, 2005|
|Last Updated Date||August 11, 2016|
|Start Date ICMJE||October 2005|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||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. ] [ Designated as safety issue: No ]|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00246857 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death|
|Official Title ICMJE||Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death|
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 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.|
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Primary Immune Deficiency|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||5000|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
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.
|Ages||Child, Adult, Senior|
|Accepts Healthy Volunteers||No|
|Listed Location Countries ICMJE||United States, Turkey|
|Removed Location Countries||Belgium, Canada, China, France, Germany, Netherlands|
|NCT Number ICMJE||NCT00246857|
|Other Study ID Numbers ICMJE||060015, 06-I-0015|
|Has Data Monitoring Committee||Not Provided|
|Plan to Share Data||Not Provided|
|IPD Description||Not Provided|
|Responsible Party||National Institute of Allergy and Infectious Diseases (NIAID)|
|Study Sponsor ICMJE||National Institute of Allergy and Infectious Diseases (NIAID)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||August 2016|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP