Scientists launch major study to track rare immune diseases
NCT ID NCT00128973
First seen Jun 27, 2026 · Last updated Sep 02, 2026 · Updated 11 times
Summary
This study is observing up to 3,500 people with immune system problems, including rare genetic conditions like chronic granulomatous disease and severe combined immunodeficiency. Researchers will track how these diseases change over time through blood tests, imaging, and checkups. The goal is to better understand these conditions and prepare for future treatment trials.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help researchers develop better treatments for rare immune disorders by understanding how these diseases progress.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly benefit participants and is focused on gathering data rather than testing a new therapy.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 3,500 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Sep 2005
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Self referred, Physician referred
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Gene therapy aims to cure inherited immune disorder
- New hope for transplant patients: immune cell therapy targets stubborn graft-versus-host disease
- Gene fix trial aims to tame rare immune disease
- New study probes immune system in rare disease patients
- Double transplant breakthrough offers hope for rare immune disorder patients
- Gene-Editing breakthrough aims to fix immune cells in rare disease