Clinical trial Recruiting at 1 site Observational

Evaluation of patients with immune function abnormalities

Official title: Screening and Baseline Assessment of Patients With Abnormalities of Immune Function

Run by National Institutes of Health Clinical Center (CC) · NCT00128973 · Data updated 2026-11-12

This study is testing how immune problems affect people with conditions like XSCID and CGD to help find better treatments and understand their health over time.

Quick facts

Study typeObservational
SexAll
Enrollment3500 (estimated)
SponsorNational Institutes of Health Clinical Center (CC)
NIH
Locations1 site (Bethesda, Maryland)
StatusRecruiting
StartedSeptember 19, 2005
Registry record updatedNovember 9, 2026
Trial IDNCT00128973 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include individuals aged 2 years and older with documented immune dysfunction or recurrent infections.

Probably not a fit

Patients with active infections at the time of enrollment may not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study evaluates patients with abnormal immune function leading to recurrent infections or chronic inflammation, including inherited conditions like X-linked severe combined immunodeficiency (XSCID) and chronic granulomatous disease (CGD). Participants will undergo baseline assessments and long-term observation to understand the natural progression of their conditions. The study aims to collect research samples and establish patterns of immune dysfunction, which may aid in developing new treatments. Family members of affected patients may also be screened for immune abnormalities.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and treatment options for patients with immune dysfunction.

How similar studies have gone: Other studies focusing on immune dysfunction have shown promise, but this specific approach is novel in its comprehensive observational methodology.

Who can join: the full rules

Show full inclusion / exclusion criteria
* INCLUSION CRITERIA:

Patients:

To be eligible to participate in this study as a patient, an individual must meet the following criteria:

* Must be 2 years of age to be seen at the Clinical Center as an outpatient and they must not have any active infections. Send-in samples for clinical diagnosis at any age.
* Have an abnormality of immune function as manifested by:

  * recurrent or unusual infections,
  * recurrent or chronic inflammation, or
  * previous laboratory evidence of immune dysfunction.
* Have a primary physician outside of the NIH.

Relatives of Patient:

To be eligible to participate in this study as a patient relative, an individual must meet the following criteria:

* Be a biological mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient.

  --Sibling, child, first cousin, aunt, and uncle must be 2 years of age to be seen at the Clinical Center as an outpatient with no active infections, Send-in samples for clinical diagnosis at any age.
* Be willing to have blood stored for future studies and/or other research purposes.

Healthy Volunteers:

To be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria:

* Be a healthy adult of either sex and between age of 18 and 85 years old.
* Have a hemoglobin count of \>=11.
* Weight greater than 110 pounds.
* Not have a history of intravenous injection drug use.
* Not have a history of engaging in high-risk activities for exposure to HIV.
* Be willing to have their blood samples stored for future research and modified to iPS cells.

Adult Subjects Who Lack Capacity to Consent to Research Participation

Adults who are unable to consent are included in this protocol because they are necessary to answer important scientific questions about abnormalities of immune function. For example, CGD patients can develop neurologic deficits leading to cognitive impairment from infections affecting the brain or from genetic mutations associated with CGD, like McLeod Syndrome. Similar cognitive impairments can occur with other primary immunodeficiencies as well. Excluding these participants from this study would limit our ability to understand these disorders, their association with the immune defect, and to develop therapeutic interventions. We will not be enrolling the other cohorts "Relatives of Patient" or "Healthy Volunteers" who are unable to consent.

EXCLUSION CRITERIA:

Patients and Relatives of Patient:

In general, there are no strict exclusion criteria for these cohorts. However, the presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a patient or relative of a patient. In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol. Pregnant females will not be allowed to participate in any procedure that may be dangerous to the pregnancy or the fetus.

Healthy Volunteers (Who are not Relatives):

An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:

* Have HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.
* Receiving chemotherapeutic agent(s) or have underlying malignancy.
* Pregnant.
* Have history of heart, lung, kidney disease, or bleeding disorders.

Where it's running

  • National Institutes of Health Clinical Center
    Bethesda, Maryland, United States
    Recruiting

Study contacts

  • Principal investigator: Harry L Malech, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
  • Study coordinator: Patricia L Littel, R.N.
  • Email: plittel@mail.nih.gov
  • Phone: (301) 335-1744

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 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.