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Trial record 1 of 1 for:    Holland | screening for immune deficiency | Maryland, United States
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Detection and Characterization of Infections and Infection Susceptibility

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00404560
Recruitment Status : Recruiting
First Posted : November 29, 2006
Last Update Posted : May 26, 2023
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )

Study Description
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Brief Summary:

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.


Condition or disease
Immune Deficiencies

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 2000 patients and family members over the next 25 years.
Study Design
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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility
Actual Study Start Date : January 2, 2007

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
healthy blood relatives
relatives not ill with a known or suspected infection susceptibility syndrome
Patients
patients who either have, or are suspected of having, an infection or infection susceptibility in order to further characterize such conditions


Outcome Measures
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Primary Outcome Measures :
  1. determination of a discrete diagnosis of an infecting agent, an underlying susceptibility trait, or both. [ Time Frame: upon diagnosis or after the second visit ]
    patients determined to have a diagnosis or syndrome that requires further study at the NIH will be asked to provide consent for enrollment into an appropriate study for further diagnosis and/or treatment


Eligibility Criteria
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Information from the National Library of Medicine

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, Learn About Clinical Studies.


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Ages Eligible for Study:   1 Month and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
primary clinical
Criteria
  • INCLUSION CRITERIA:

PATIENTS:

  • Patients known to have, or suspected of having an infection susceptibility and their healthy blood relatives will be eligible for enrollment.
  • Participants must be over 1 month of age. There will be no limit as to sex, race or disability.
  • 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.
  • The participant or the participant'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.
  • Patients and relatives must agree to have blood and tissue stored for future studies of the immune system and/or other medical conditions.
  • Patients and relatives may be concurrently enrolled on other protocols as long as the Principal Investigator is informed.
  • The patient must be enrolled on this protocol to have relatives enrolled.

The patient and patient relative cohorts will include the following special populations:

  • Children: Children are included in this study because immune defects may present in early childhood, and early diagnosis or characterization may benefit subjects. Children who do not meet the age and weight criteria for care at the Clinical Center, may have sample collection only.
  • Decisionally impaired adults: Patients and patient relatives will be able to provide informed consent for themselves or, if they lack the capacity to provide informed consent, the study team will obtain consent from the legally authorized representative. Patients with underlying immune disorders, autoimmune phenomena or severe infections may sometimes present with delirium, encephalopathy, or coma and are therefore unable to provide informed consent. Excluding patients who are unable to provide consent could adversely impact patient access to medical therapy at the NIH as well as adversely impact research recruitment. Excluding patients unable to provide consent would also essentially prohibit us from evaluating patients at higher risk for adverse outcomes and therefore skew our understanding of disease. Similarly, enrolled patient subjects who lose the ability to provide ongoing consent during study participation may continue in the study. The risks and benefits of participation for subjects unable to consent should be identical to those described for less vulnerable patients.

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.
  3. Pregnancy
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00404560


Contacts
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Contact: Dawn Shaw, R.N. (301) 401-4740 dawn.shaw2@nih.gov
Contact: Steven M Holland, M.D. (301) 402-7684 sholland@mail.nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY dial 711    ccopr@nih.gov   
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Investigators
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Principal Investigator: Steven M Holland, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
More Information
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Additional Information:

Publications:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov Identifier: NCT00404560    
Other Study ID Numbers: 070033
07-I-0033
First Posted: November 29, 2006    Key Record Dates
Last Update Posted: May 26, 2023
Last Verified: May 22, 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: .We will share human data generated in this study for future research as follows:@@@@@@ (Summation)Identified data in the Biomedical Translational Research Information System (BTRIS, automatic for activities in the NIH CC).@@@@@@ (Summation)De-identified or identified data with approved outside collaborators under appropriate agreements.@@@@@@ (Summation)Data sharing may be complicated or limited in certain cases by contractual obligations or agreements with outside collaborators, such as cooperative research and development agreements, clinical trial agreements, other restraints, etc.
Supporting Materials: Statistical Analysis Plan (SAP)
Time Frame: IPD and supporting information will be available after completion of the study. No end date.
Access Criteria: Data will be shared through:@@@@@@ (Summation)BTRIS (automatic for activities in the NIH CC).@@@@@@ (Summation)Approved outside collaborators under appropriate individual agreements.@@@@@@ (Summation)Publication and/or public presentations.@@@@@@Data might be shared before publication.@@@@@@The PI will review all requests for sharing data.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
Primary Immune Deficiency
Autoimmune
Genetic Defects
Immune Defects
Infection Susceptibility
 Recurrent Infections
Immune Disorders
Immune Defects of Phagocytes
Unusual, Chronic Bacterial, Mycobacterial, and Fungal Infections
Additional relevant MeSH terms:
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Infections
Communicable Diseases
Immunologic Deficiency Syndromes
Disease Susceptibility
 Disease Attributes
Pathologic Processes
Immune System Diseases