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
: March 29, 2018
|
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Background:
- 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.
Objectives:
- To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections.
Eligibility:
- 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).
Design:
- 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 |
---|
Primary Immune Deficiency Candida Autoimmune Polyendocrinopathy Candidiasis Ectodermal Chronic Mucocutaneous Candidiasis (CMC) Fungal Infection |
Study Type : | Observational |
Estimated Enrollment : | 850 participants |
Time Perspective: | Prospective |
Official Title: | Studies of Disorders With Increased Susceptibility to Fungal Infections |
Study Start Date : | September 24, 2010 |


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Ages Eligible for Study: | Child, Adult, Senior |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
- INCLUSION CRITERIA:
Patient Participants (or simply Patient):
Patients with abnormalities of immune function as manifested by recurrent or unusual fungal infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction are eligible for screening and assessment under this protocol. Of particular focus of this study are patients with:
- APECED (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
- CMC (chronic mucocutaneous candidiasis)
- MPO (myeloperoxidase deficiency)
- IPEX (immune dysregulation polyendocrinopathy enteropathy X-linked)
- Hyper-immunoglobulin E syndrome (Job s syndrome)
- CGD (chronic granulomatous disease)
- Biotinidase deficiency
- Other conditions showing increased susceptibility to such infections as described in infants and type 1 diabetic patientts
There will be no limit due to age, sex, race, or disability.
All patients must have a primary physician outside of the NIH.
Women of child-bearing potential, or who are pregnant or lactating, may be eligible and will only undergo tests and procedures, and/or receive medications that are of proven minimal risk to the fetus or child. Only diagnostic tests without radiographs will be performed.
All patients will be required to have blood stored for future studies and/or other medical conditions.
Relatives:
Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient participant.
There is no limit due to age, sex, race, or disability.
Relatives will be required to have blood stored for future studies and/or other medical conditions.
Healthy volunteers must:
Be an adult of either sex and between age of 18 and 85 years old
Have a hemoglobin concentration of greater than or equal to 11 g/dL
Weigh greater than or equal to 110 pounds
EXCLUSION CRITERIA:
Patient:
The presence of certain types of acquired abnormalities of immunity solely due to human immunodeficiency virus (HIV), chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a subject.
Relatives:
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 relative.
Healthy volunteers are not eligible if:
Receiving chemotherapeutic agent(s), or have underlying malignancy
Pregnant or lactating
Have history of heart, lung, kidney disease, bleeding or immunologic disorders leading to significant incapacity
Have a history of recurrent or severe infections
Have a history of HIV seropositivity
Have a history of viral hepatitis (B or C)

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) 451-7820 | nkwatemaa@niaid.nih.gov | |
Contact: Sergio D Rosenzweig, M.D. | (301) 496-4879 | srosenzweig@mail.nih.gov |
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 prpl@cc.nih.gov |
Principal Investigator: | Sergio D Rosenzweig, M.D. | National Institutes of Health Clinical Center (CC) |
Additional Information:
Publications:
Responsible Party: | National Institute of Allergy and Infectious Diseases (NIAID) |
ClinicalTrials.gov Identifier: | NCT01222741 History of Changes |
Other Study ID Numbers: |
100216 10-I-0216 |
First Posted: | October 18, 2010 Key Record Dates |
Last Update Posted: | March 29, 2018 |
Last Verified: | January 22, 2018 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
AIRE- Autoimmune Regulator Gene APECED- Autoimmune Polyendocrinopathy-Candidiasis Ectodermal Dystrophy CGD (Chronic Granulomatous Disease) CMC- Chronic Mucocutaneous Candidiasis |
Additional relevant MeSH terms:
Candidiasis Candidiasis, Chronic Mucocutaneous Infection Communicable Diseases Disease Susceptibility Mycoses Immunologic Deficiency Syndromes Polyendocrinopathies, Autoimmune |
Disease Attributes Pathologic Processes Immune System Diseases Dermatomycoses Skin Diseases, Infectious Skin Diseases Endocrine System Diseases Autoimmune Diseases |