Examining infections and immune system weaknesses

Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility

Observational National Institutes of Health Clinical Center (CC) · NCT00404560

This study is trying to find out what causes immune system problems that make it hard for people to fight infections, and it's for those who have or think they might have these issues.

Quick facts

Study typeObservational
Enrollment2000 (estimated)
Ages1 Month to 100 Years
SexAll
SponsorNational Institutes of Health Clinical Center (CC) NIH
Drugs / interventionschemotherapy
Locations1 site (Bethesda, Maryland)
Trial IDNCT00404560 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the causes of immune disorders that affect white blood cells, which are crucial for defending against infections. It involves up to two visits where patients with suspected or known infection susceptibility and their family members will undergo evaluations and provide biological samples for research. The study seeks to develop improved diagnostic and treatment methods for these immune disorders and may lead to further studies for eligible participants. Financial assistance may be available for subsequent visits, but not for the initial visit.

Who should consider this trial

Good fit: Ideal candidates include patients with known or suspected infection susceptibility and their healthy blood relatives.

Not a fit: Patients who do not have any known or suspected immune deficiencies or infection susceptibility may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better diagnosis and treatment options for patients with immune deficiencies.

How similar studies have performed: Other studies focusing on immune deficiencies have shown promise in understanding and treating these conditions, indicating that this approach is grounded in prior successful research.

Eligibility criteria

Show full inclusion / exclusion 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/LAR 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, as determined by the Principal Investigator.

Where this trial is running

Bethesda, Maryland

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Immune DeficienciesPrimary Immune DeficiencyAutoimmuneGenetic DefectsImmune DefectsInfection SusceptibilityRecurrent InfectionsImmune Disorders
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.