Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
Key facts
- Where
- Bethesda, Indianapolis, and Washington D.C., United StatesSee the 3 sites
Where in United States
- National Institutes of Health Clinical CenterBethesda, United StatesContact: Mary BowesTaking people
- Indiana University School of MedicineIndianapolis, United StatesContact: Rachel LemontTaking people
- Children's National Medical CenterWashington D.C., United StatesContact: Srinivasalu HemalathaNot yet recruiting
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- National Institute of Allergy and Infectious Diseases (NIAID)
- Trial code
- NCT05656365
- Record updated
- 12 November 2026
- Original description
Background:Read full original descriptionShow less
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.
Exclusion: An individual who has any condition that, in the judgment of the investigator, may put them at undue risk or make them unsuitable for participation in the study will be excluded.
INCLUSION CRITERIA:; Participants must meet all the following inclusion criteria to be eligible for this study:; Aged >=1 month. To be seen at the NIH CC, participants must be >=3 years of age; Diagnosed with PFAPA or another tonsil disorder, or has symptoms consistent with these conditions, as determined by the investigator; Able to provide informed consent (for ages >=18 years) or has a parent or guardian who can provide informed consent on their behalf (for ages <18 years); Willing to allow specimens and data to be stored for future research; Willing to allow genetic testing on their biospecimens.