Studying immune disorders that increase susceptibility to fungal infections
Studies of Disorders With Increased Susceptibility to Fungal Infections
This study is trying to find out how certain immune disorders make people more likely to get fungal infections like Candida by testing patients and their family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 850 (estimated) |
| Ages | 18 Years to 85 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT01222741 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate and diagnose individuals with primary immune deficiencies that lead to increased susceptibility to fungal infections, particularly Candida. Participants, including patients and their first- and second-degree relatives, will provide blood and biological samples for analysis. The study will also involve genetic testing and assessments of immune function to better understand these disorders. Healthy volunteers will serve as control subjects to compare immune responses and genetic factors.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with abnormal immune function characterized by recurrent fungal infections or previous laboratory evidence of immune dysfunction.
Not a fit: Patients without immune deficiencies or those not experiencing recurrent fungal infections are unlikely to benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of immune disorders that predispose individuals to fungal infections.
How similar studies have performed: Other studies have shown success in understanding immune deficiencies and their relation to infections, but this specific approach may provide novel insights.
Eligibility criteria
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: * Be 2 years of age to be seen at the Clinical Center as an outpatient. Children \<=3 years of age must not have severe infections, as assessed by the investigator, to be seen at the Clinical Center. Send-in samples may be submitted by participants \>30 days of age. * Have an abnormality of immune function as manifested by recurrent or unusual fungal infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. Of particular focus of this study are patients with: * APECED * CMC * MPO * IPEX * Hyper-immunoglobulin E syndrome (Job s syndrome) * CGD * Biotinidase deficiency * IKAROS defects * AIOLOS defects * IRF4 defects * Other conditions showing increased susceptibility to such infections as described in infants and type 1 diabetic patients * Have a primary physician outside of the NIH. * Agree to have blood stored for future research. * Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document. Relatives To be eligible to participate in this study as a relative, an individual must meet the following criteria: * Be 2 years of age to be seen at the Clinical Center as an outpatient. Children \<=3 years of age must not have severe infections, as assessed by the investigator, to be seen at the Clinical Center. Send-in samples may be submitted for participants \>30 days of age. * Be a mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient participant. * Adult relatives must be able to provide informed consent. * Agree to have blood stored for future research. Healthy volunteers To be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria: * Be 18 to 85 years old. * Have a hemoglobin count of \>11 g/dL. * Weigh \>=110 pounds. * Be able to provide informed consent. * Be willing to have blood stored for future research. EXCLUSION CRITERIA: Patients and Relatives 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. 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: * Is receiving chemotherapeutic agent(s) or has an underlying malignancy. * Is pregnant. * Has a history of heart, lung, or kidney disease, or bleeding disorders. * Has HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Sergio D Rosenzweig, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Sergio D Rosenzweig, M.D.
- Email: srosenzweig@mail.nih.gov
- Phone: (301) 451-8971
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.