Studies of Disorders With Increased Susceptibility to Fungal Infections
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|ClinicalTrials.gov Identifier: NCT01222741|
Recruitment Status : Recruiting
First Posted : October 18, 2010
Last Update Posted : November 23, 2020
- Researchers are interested in studying disorders that make individuals more susceptible to fungal infections, specifically infections with the Candida yeast. These disorders are often related to problems with the immune system and may have genetic factors, which suggests that researchers should study not only the individual with the disorder, but also his or her first- and second-degree relatives (such as parents, siblings, children, and first cousins). To provide material for future research, individuals with immune disorders and their first- and second-degree relatives will be asked to provide blood and other samples for testing and comparison with samples taken from healthy volunteers with no history of immune disorders.
- To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections.
- Individuals of any age who have abnormal immune function characterized by recurrent or unusual fungal infections, recurrent or chronic inflammation, or other types of immune dysfunction.
- First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins).
- Healthy volunteers at least 18 years of age (for comparison purposes).
- Participants will provide blood samples and buccal (cells from the inside of the mouth near the cheek) samples.
- Participants with immune disorders will also be asked to provide urine samples, saliva or mucosal samples, or skin tissue biopsies, and may also have imaging studies (such as x-rays) to collect information for research.
- Samples may be collected at the National Institutes of Health or at other clinical locations for the samples to the sent to the National Institutes of Health.
- No treatment will be provided as part of this protocol.
|Condition or disease|
|Fungal Infections Primary Immune Deficiencies|
|Study Type :||Observational|
|Estimated Enrollment :||850 participants|
|Official Title:||Studies of Disorders With Increased Susceptibility to Fungal Infections|
|Actual Study Start Date :||January 7, 2011|
family member to patient
- characterization [ Time Frame: 10 years ]Characterize and compare the clinical and laboratory features of APECED, CMC, and other primary immunodeficiencies or particular conditions (such as infancy or diabetic subjects) with increased susceptibility to Candida or other fungal infections.
- Determine the prevalence of mutation [ Time Frame: 10 years ]Determine the prevalence of AIRE mutations in patients with increased susceptibility to Candida or other fungal infections.
- genotype-phenotype correlation [ Time Frame: 10 years ]Establish a genotype-phenotype correlation in patients with different AIRE mutations.
- Determine and compare the functionality [ Time Frame: 10 years ]Determine and compare the functional integrity of Th17, Dectin1, and AIRE pathways in patients with increased susceptibility to Candida or other fungal infections with and without AIRE mutations
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01222741
|Contact: Nana Kwatemaa, R.N.||(301) email@example.com|
|Contact: Sergio D Rosenzweig, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Sergio D Rosenzweig, M.D.||National Institutes of Health Clinical Center (CC)|