Detection and Characterization of Host Defense Defects

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Collaborators:
University of Miami
University of South Florida
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001355
First received: November 3, 1999
Last updated: September 12, 2014
Last verified: July 2014

November 3, 1999
September 12, 2014
April 1993
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Complete list of historical versions of study NCT00001355 on ClinicalTrials.gov Archive Site
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Detection and Characterization of Host Defense Defects
Detection and Characterization of Host Defense Defects

This protocol is designed to evaluate selected patients with documented recurrent or unusual infections and their family members for clinical and laboratory correlates of immune abnormalities. It allows long term follow up of patients with host defense defects and permits the periodic study of their blood, urine, saliva, skin, 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.

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)
  2. Try to develop better ways to diagnose and treat patients with these diseases, and to prevent, diagnose and treat their infections

Patients and family members may undergo the following procedures:

  • A personal and family medical history, physical examination and other procedures, which may include various blood tests; urinalysis; saliva collection; imaging studies such as chest X-ray, computed tomography (CT) or magnetic resonance imaging (MRI); and lung function studies, dental examination or eye examinations, if medically indicated.
  • Patients who have draining wounds will have fluid collected from these wounds for biochemical study.
  • Tissues removed as part of medical care, such as pieces of lung, liver, or teeth, or biopsies of these tissues will be studied.
  • Patients who have an immune problem that investigators wish to study further will be asked to return to NIH for follow-up visits at irregular intervals, but at least every 6 months. The visits will include an updated medical history, examination directed at the particular medical problem related to the immune disorder, follow-up of abnormal tests or treatment, and collection of blood, saliva, urine, or wound fluid for study.
  • Patients may have genetic testing and must be willing to have specimens stored for future research.
  • Family members will have a medical history, saliva or urine collection, and chest X-ray or other imaging study, if medically indicated.
  • Normal volunteers who have had tissue biopsies or pieces of tissue removed as part of medical care, such as pieces of lung, liver, or teeth, will have these tissues studied.
  • NIH does not cover the cost of the initial screening visit for travel or lodging. A financial assessment may determine if the patient is eligible for financial assistance. This study does not enroll children under the age of 2.
  • Patients will be asked to obtain their medical records, previous test results, or imaging studies prior to the first visit.

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, skin, 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.

Observational
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  • Immunologic Deficiency Syndrome
  • Infection
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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.
 
Recruiting
2000
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  • INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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).

Both
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Yes
Contact: Cathleen Frein, R.N. (301) 402-1006 freinc@mail.nih.gov
Contact: Steven M Holland, M.D. (301) 402-7684 sholland@mail.nih.gov
United States
 
NCT00001355
930119, 93-I-0119
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National Institute of Allergy and Infectious Diseases (NIAID)
  • University of Miami
  • University of South Florida
Principal Investigator: Steven M Holland, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health Clinical Center (CC)
July 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP