Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders

Part of paid clinical trials in Washington D.C., District of Columbia.

Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
Study ID
NCT05656365
Status
Recruiting
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Conditions

  • Obstructive Sleep Apnea
  • Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Cervical Adenitis (Pfapa)
  • Sleep Disordered Breathing
  • Tonsil Disorder
  • Tonsillitis

Eligibility Criteria

Sex
ALL
Age
1 Month - 99 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
May 23, 2023
Status verified
Apr 2026
Primary completion
Jun 30, 2037
Completion
Dec 31, 2038

Study Design

Enrollment
1,500 participants (estimated)

Arms

  • Arm: Patients
    Patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome and other tonsil disorders.

Primary Outcome Measure

Identify genetic risk variants for PFAPA and other tonsil disorders [ Time Frame: Throughout study ]

Central Contacts

Locations (3)

FacilityCityStateZIPSite coordinators
Children's National Medical CenterWashington D.C.District of Columbia20010
Srinivasalu Hemalatha
[email protected]
202-476-2800
Indiana University School of MedicineIndianapolisIndiana46290
Rachel Lemont
[email protected]
317-944-7260
Annette Childress
[email protected]
(317) 944-7260
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222
Mary Bowes
[email protected]
(240) 408-0970

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By research site
Children's National Medical Center· Washington D.C., DCIndiana University School of Medicine· Indianapolis, INNational Institutes of Health Clinical Center· Bethesda, MD

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