Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.
P Ahonen, S Myllärniemi, I Sipilä...
https://pubmed.ncbi.nlm.nih.gov/2348835Actively Recruiting
Age: 1Day - 99Years
All Genders
Healthy Volunteers
ID01386437
The Natural History and Pathogenesis of Human Fungal Infections
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-06-08
1200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying people with immune system problems that lead to unusual, severe, or persistent fungal infections. The goal is to better understand the clinical, microbiologic, genetic, and immunologic factors involved in these infections by collecting medical data and biological samples. The study includes patients with inherited or acquired immune deficiencies, their relatives, and healthy volunteers as controls. This long-term research may last up to 25 years to track the natural history and immune mechanisms behind fungal infections. Participants include those with mucocutaneous or invasive fungal infections linked to immune problems, as well as their family members and healthy volunteers. Initial visits involve detailed medical history, physical exams, and blood collection. Additional samples like saliva, urine, stool, cheek cells, nail clippings, or tissue biopsies may be collected for genetic and immune testing. Follow-up visits typically occur every six months or more often depending on clinical status, and may include updated exams and sample collection. Healthy volunteers generally have fewer study visits. During the study, participants provide ongoing medical information and biological samples to help researchers analyze immune function and fungal infection patterns. Assessments include physical exams, laboratory tests, and genetic studies. The main outcome is understanding the immune mechanisms that cause fungal susceptibility over 25 years. Participants may receive standard medical care as needed and can leave the study at any time. The study is observational and aims to gather data to improve knowledge of fungal infections in people with immune system issues.
CONDITIONS
Brief Title
Natural History of Individuals With Immune System Problems That Lead to Fungal Infections
Who Can Participate
Age: 1Day - 99Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Adults or children with inherited immunodeficiency and diagnosed mucocutaneous or invasive fungal infection
- Adults or children with acquired immunodeficiency and severe or persistent mucocutaneous fungal infection
- Adults or children with acquired immunodeficiency and possible or proven invasive fungal infection
- Adults or children with prior severe or treatment-refractory fungal infections who have recovered
- Adults or children with confirmed or suspected APECED without current fungal infection
- Ongoing care by a primary or referring physician
- Willing to allow storage of blood and tissue samples for future analysis
- Willing to allow genetic testing from blood, body fluids, or tissue
- Willing to have HIV testing
- Able to provide informed consent or have a legal guardian provide consent
- No children under 2 years seen at Clinical Center, but mail-in participation allowed
- Genetically related relatives willing to participate meeting above consents
- Healthy volunteers aged 18 to 85 willing to provide samples and consent
- NIH employees eligible
You will not qualify if you...
- Any condition interfering with evaluation of immune abnormalities or posing undue risk
- Unwillingness to undergo study testing or procedures
- Hemoglobin below 7 gm/dL unless only providing leftover specimens
- Relatives with conditions interfering with immune evaluation
- Healthy volunteers with HIV infection
- History of recurrent or severe infections
- History of cancer or chemotherapy within past 5 years
- Recent use of systemic corticosteroids or immunosuppressants within 30 days
- Pregnancy or lactation
- History of heart, lung, kidney disease, or bleeding disorders
- Any condition interfering with comparison to affected subjects' clinical specimens
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Initial assessment period with no fixed end date
Participants undergo clinical evaluations including history and physical exams, and collection of blood, saliva, and possible tissue samples for genetic and immunologic testing.
1 to multiple visits depending on clinical needs
Long-term Monitoring
Duration - Up to 25 years
Participants are followed for up to 25 years with additional clinical evaluations and sample collections every 6 months or more frequently based on clinical course and type of fungal infection.
Visits approximately every 6 months or more frequently as needed
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
M
Michail S Lionakis, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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