Detection and Characterization of Host Defense Defects
|First Received Date ICMJE||November 3, 1999|
|Last Updated Date||February 19, 2014|
|Start Date ICMJE||April 1993|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00001355 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||Detection and Characterization of Host Defense Defects|
|Official Title ICMJE||Detection and Characterization of Host Defense Defects|
This study will: 1) determine the biochemical and genetic causes of inherited immune diseases affecting phagocytes (white blood cells that defend against bacterial and fungal infections); and 2) try to develop better ways to diagnose and treat patients with these diseases, and to prevent, diagnose and treat their infections.
Patients with chronic granulomatous disease (CGD), hyper immunoglobulin-E recurrent infection syndrome (HIE or Job s syndrome), chronic and cyclic neutropenia, Chediak-Higashi syndrome (CHS), leukocyte adhesion deficiency (LAD), and disseminated mycobacterial infections, and their family members, may be eligible for this study. Normal volunteers between the 18 and 70 years of age will also be enrolled.
All participants will donate 1 to 3 ounces (2 to 6 tablespoons) of blood at a time, but no more than 1 pint (32 tablespoons) for adults and one-half teaspoon per pound of body weight for children over a 6-week period. They will also have DNA studies to try to identify genetic factors related to inherited immune disorders. In addition,
This protocol is designed to evaluate selected patients with documented recurrent or unusual infections and their family members for clinical and in vitro correlates of immune abnormalities. It will also allow long term follow up of patients with host defense defects and permit us to periodically obtain blood, urine, saliva, stool and vaginal specimens or wound drainage from such patients or their family members for medically indicated purposes and research studies related to understanding the genetic and biochemical bases of these diseases. This protocol may help provide patients and materials for the development of therapies for these diseases.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
|Publications *||Burbelo PD, Browne SK, Sampaio EP, Giaccone G, Zaman R, Kristosturyan E, Rajan A, Ding L, Ching KH, Berman A, Oliveira JB, Hsu AP, Klimavicz CM, Iadarola MJ, Holland SM. Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia. Blood. 2010 Dec 2;116(23):4848-58. Epub 2010 Aug 17.|
* 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||2000|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
Patients known to have or suspected of having an immune defect significantly or primarily involving the phagocytes will be eligible for enrollment, as well as their blood relatives. Such syndromes include but are not limited to those listed above. There will be no limit as age, sex, race or disability. Normal volunteers will be healthy adults between the age of 18 and 70 years and of either sex.
Subjects enrolled will be able to provide informed consent for themselves or if they lack the capacity to provide informed consent, the study team will comply with MAS 87-4.
The presence of an acquired abnormality which leads to immune defects, such as HIV, cytotoxic chemotherapy or malignancy could be grounds for possible exclusion if, in the opinion of the investigator, the presence of such disease process interfered with evaluation.
Subjects with dementia that impairs obtaining informed consent are excluded unless there is an appropriate surrogate (legal guardian or durable power of attorney who is willing to provide consent).
|Accepts Healthy Volunteers||Yes|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT00001355|
|Other Study ID Numbers ICMJE||930119, 93-I-0119|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|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 2013|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP