Evaluation of patients with immune function abnormalities

Screening and Baseline Assessment of Patients With Abnormalities of Immune Function

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 type: Observational
• Enrollment: 3500 (estimated)
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT00128973 on ClinicalTrials.gov

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.

Who should consider this trial

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

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

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

Eligibility 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.

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:

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 this trial is running

Bethesda, Maryland

• 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.

Conditions: Chronic Granulomatous Disease, X-Linked Severe Combined Immune Deficiency, Leukocyte Adhesion Deficiency 1, Graft Versus Host Disease, Infection, Genetic, Inherited Disease, Immunity