Detection and Characterization of Infections and Infection Susceptibility

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
ClinicalTrials.gov Identifier:
NCT00404560
First received: November 28, 2006
Last updated: September 12, 2014
Last verified: May 2014

November 28, 2006
September 12, 2014
November 2006
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The primary endpoint of this study will be determination of a discretediagnosis of an infecting agent, an underlying susceptibility trait, or both. [ Time Frame: Within 2 visits ] [ Designated as safety issue: No ]
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Complete list of historical versions of study NCT00404560 on ClinicalTrials.gov Archive Site
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Detection and Characterization of Infections and Infection Susceptibility
Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility

This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders. This is a 2 visit screening study and patients determined to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow up study. This study does not cover the cost of the first visit to NIH for travel or lodgings but does cover the subsequent visit if there is one. 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 known to have or suspected of having increased susceptibility to infections and their blood relatives may be eligible for this study, at the discretion of the principal investigator. Patients and family members may undergo the following procedures:

  • Personal and family medical history.
  • Physical examination and blood and urine tests.
  • Studies of breathing function (pulmonary function testing)
  • Dental examination.
  • Eye examination.
  • Genetic Testing
  • Stored specimens for future analysis
  • Microscopic examination of saliva, wound drainage or tissues removed for medical reasons for cell, hormone or DNA studies.

In addition, patients will be asked to obtain permission for investigators to obtain their medical records, previous test results, or radiographic studies prior to the first visit. Patients will be asked to undergo imaging studies, such as a chest X-ray, CT scan or MRI scan.

This screening study is designed to evaluate patients with suspected or identified recurrent or unusual infections and their family members for clinical and in vitro correlates of exposure and susceptibility. It will allow for up to 2 visits to obtain blood, urine, saliva, stool, skin biopsy, or wound drainage from such patients or their family members for research studies related to understanding the nature of the infection as well as the genetic and biochemical bases of these diseases. Patients determined by initial evaluation to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow-up study. The present study will enroll up to 1500 patients and family members over the next 15 years.

Observational
Time Perspective: Retrospective
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  • Immune Disorders
  • Chronic Granulomatous Disease
  • Genetic Immunological Deficiencies
  • Hyperimmunoglobulin-E Recurrent Infection Syndrome
  • Recurrent Infections
  • Unknown Immune Deficiency
  • GATA2 Deficiency (MonoMAC),
  • Nontuberculous Mycobacterial Infections
  • Hyper IgE (Job s) Syndrome
  • Leukocyte Adhesion Deficiency
  • Susceptibility to Disseminated Infections
  • Primary Immune Deficiency Disease (PIDD)
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1500
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  • INCLUSION CRITERIA:

PATIENTS:

  1. Patients known to have, or suspected of having an infection susceptibility will be eligible for enrollment.
  2. Patients with known or suspected infections will also be eligible in order to identify the microbiologic cause of the infection, identify the extent of infection, or determine the proper course of treatment. There will be no limit as to age, sex, race or disability.
  3. Patients must have a primary physician outside of the NIH and may be required to submit a letter from their physician that documents their relevant health history.
  4. The patient or the patient's guardian will be willing and capable of providing informed consent after initial counseling by clinical staff. Separate consent forms for all interventional procedures will be obtained after explanation of the specific procedure.
  5. Women of childbearing potential, or who are pregnant or lactating, may be eligible. Interventions in pregnant or lactating women will minimize as much as possible risks to the fetus/infant but will follow state of art evaluation and therapy. Should a woman become pregnant or suspect she may be pregnant while participating in this study, she should inform the study staff and her primary care physician immediately.
  6. Patients must agree to have blood and tissue stored for future studies of the immune system and/or other medical conditions.
  7. Patients may be concurrently enrolled on other protocols as long as the Principal Investigator is informed.

HEALTHY BLOOD RELATIVES OF PATIENTS:

  1. Healthy blood relatives of patients known to have or suspected of having an infection susceptibility will be eligible for enrollment only if they have a sick relative who is enrolled on this protocol as a patient.
  2. There will be no limit as age, sex, race or disability.
  3. Relatives or the minor relative's guardian must be willing and capable of providing informed consent after initial counseling by clinical staff.
  4. Participating relatives agree to have blood stored for future studies of the immune system and/or other medical conditions.

EXCLUSION CRITERIA:

  1. A well understood acquired abnormality which leads to infection susceptibility, such as HIV, cytotoxic chemotherapy, or active malignancy may be adequate explanation for the infection diathesis. These may be grounds for exclusion if, in the opinion of the investigators, the presence of such disease process interferes significantly with evaluation (applicable to patients and their blood relatives).
  2. Severe or uncommon infections or syndromes often require highly specialized teams and institutions. Some referred cases will not be able to be handled appropriately at the NIH and may be deemed ineligible for admission, as determined by the Principal Investigator.
Both
2 Years and older
No
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
 
NCT00404560
070033, 07-I-0033
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National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
National Institute of Allergy and Infectious Diseases (NIAID)
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Principal Investigator: Steven M Holland, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health Clinical Center (CC)
May 2014

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