Understanding PFAPA and Other Tonsil Disorders
This study is looking into Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) syndrome and other tonsil disorders. Researchers want to understand what causes these conditions by studying genetics (your inherited traits), immunology (how your body's defense system works), and microbes (tiny living things like bacteria). They will collect blood and other samples from people with PFAPA or other tonsil disorders to find genetic risk factors and learn more about the immune system and the types of microbes present. The study aims to identify genetic differences and understand how the body responds to these conditions. This is an observational study, meaning no specific treatments are being tested. It is open to people aged 1 month to 99 years who have PFAPA or other tonsil disorders, or symptoms consistent with them.
- Study design
- This is an observational study planning to enroll 1500 participants. It is not specified if it is randomized or blinded.
- What's involved
- Participants will be screened, and their medical records will be reviewed. Researchers will collect blood, saliva, buccal swabs, oropharyngeal swabs, nasopharyngeal swabs, nasopharyngeal wash, and/or stool samples. If a tonsillectomy or adenoidectomy is planned, leftover tissue may also be collected.
- Compensation
- Not stated in the trial record.
- Follow-up
- The study aims to identify genetic risk variants and characterize clinical outcomes and microbiota throughout the study.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
At a glance
Conditions
Where it's being run
3 sites across 3 statesStudy leadership
- Kalpana Manthiram, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)
Who to contact
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What this trial measures
- Identify genetic risk variants for PFAPA and other tonsil disordersThroughout study
To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders
- Characterize clinical outcomes following tonsillectomy and other clinically indicated treatments.Throughout study
To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders
- Characterize the tonsillar/adenoid, oral, nasal and/or stool microbiota in people with PFAPA and other tonsil disordersThroughout study
To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders
- Characterize immune cell populations, gene expression including at the single cell level, epigenetic features, and protein expression ex vivo in blood, tissue, washes, or swabs from people with PFAPA and other tonsil disordersThroughout study
To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders