Actively Recruiting
Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-04-08
1500
Participants Needed
3
Research Sites
814 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever syndrome of childhood. Symptoms can include swelling of the glands in the throat, mouth ulcers, and tonsillitis. Removal of the tonsils can stop the periodic flareups. But researchers do not know how PFAPA develops. In this natural history study, researchers will collect specimens and data from people with PFAPA to see what they might have in common. Objective: To collect blood and other specimens from people with PFAPA to learn more about the illness. Eligibility: People aged 1 month or older with symptoms of PFAPA or another tonsil disorder. Design: Participants will be screened. Their medical records will be reviewed. Researchers will ask about a family history of PFAPA. The following specimens may be collected: Blood. Blood will be drawn either from a needle inserted into a vein or from a prick in the finger or heel. Mucus and cells. A stick with soft padding on the tip may be rubbed inside the nostrils or mouth. Stool. Saliva. Tissue samples may be taken if participants are having surgery to remove the tonsils or adenoids. Participants having surgery may also have a nasopharyngeal wash; salt water will be squirted into the back of the throat and then sucked back out with a syringe. Most participants will provide specimens only once. They can do this in person at the clinic; they can also have their local health providers send specimens to the researchers. Some participants may have optional follow-up visits over 10 years.
CONDITIONS
Official Title
Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants aged 1 month or older (must be 3 years or older to be seen at NIH Clinical Center)
- Diagnosed with PFAPA or another tonsil disorder, or have symptoms consistent with these conditions
- Able to provide informed consent if 18 years or older, or have a parent/guardian provide consent if under 18
- Willing to allow specimens and data to be stored for future research
- Willing to allow genetic testing on their biospecimens
You will not qualify if you...
- Any condition that may put the participant at undue risk or make them unsuitable for the study as determined by the investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
Children's National Medical Center
Washington D.C., District of Columbia, United States, 20010
Not Yet Recruiting
2
Indiana University School of Medicine
Indianapolis, Indiana, United States, 46290
Actively Recruiting
3
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
M
Mary T Bowes
CONTACT
K
Kalpana Manthiram, M.D.
CONTACT
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
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here