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

Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · Dec 16, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a condition called PFAPA, which stands for Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis. It's a common childhood illness that causes symptoms like sore throats, mouth ulcers, and swollen glands. Researchers want to understand how PFAPA develops by collecting samples and information from people with this condition and other tonsil-related disorders. They will look for common traits among participants to help improve future treatments.

To participate, individuals must be at least one month old and show symptoms of PFAPA or another tonsil disorder. Participants will provide samples, such as blood, saliva, and mucus, during a single visit to the clinic or through their local healthcare provider. Some may also have the option for follow-up visits over ten years. It’s important to know that while the study is open to everyone with the right symptoms, certain health conditions may prevent someone from joining. This research aims to shed light on PFAPA and potentially lead to better management and understanding of this illness.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• Participants must meet all the following inclusion criteria to be eligible for this study:
• • 1. Aged \>=1 month. To be seen at the NIH CC, participants must be \>=3 years of age.
• • 2. Diagnosed with PFAPA or another tonsil disorder, or has symptoms consistent with these conditions, as determined by the investigator.
• • 3. 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).
• • 4. Willing to allow specimens and data to be stored for future research.
• • 5. Willing to allow genetic testing on their biospecimens.
• EXCLUSION CRITERIA:
• • 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.

Trial Officials