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: May 14, 2014
Last verified: May 2014
  Purpose

This 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.

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.
  • Microscopic examination of saliva, wound drainage or tissues removed for medical reasons for cell, hormone or DNA studies.

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


Condition
Immune Disorders
Chronic Granulomatous Disease
Genetic Immunological Deficiencies
Hyperimmunoglobulin-E Recurrent Infection Syndrome
Recurrent Infections

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • 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 ]

Estimated Enrollment: 1500
Study Start Date: November 2006
Detailed Description:

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.

  Eligibility

Ages Eligible for Study:   2 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00404560

Contacts
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

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Steven M Holland, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Publications:
Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
ClinicalTrials.gov Identifier: NCT00404560     History of Changes
Other Study ID Numbers: 070033, 07-I-0033
Study First Received: November 28, 2006
Last Updated: May 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Immune Deficiency
Bacteria
Fungi
Mycobacteria
Genetics
Infection Susceptibility
Recurrent Infections
Immune Disorders

Additional relevant MeSH terms:
Infection
Disease Susceptibility
Granulomatous Disease, Chronic
Immune System Diseases
Job's Syndrome
Granuloma
Disease Attributes
Pathologic Processes
Phagocyte Bactericidal Dysfunction
Leukocyte Disorders
Hematologic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Immunologic Deficiency Syndromes
Lymphoproliferative Disorders
Lymphatic Diseases

ClinicalTrials.gov processed this record on July 22, 2014