Understanding the genetics and immune response in PFAPA syndrome and tonsil disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to collect blood and other biological specimens from individuals diagnosed with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, as well as other tonsil disorders. Researchers will analyze these samples to investigate genetic, immunologic, and microbial factors that may contribute to the development of these conditions. Participants can be seen in person or remotely, and those undergoing tonsillectomy may provide leftover clinical specimens for research. The study seeks to identify genetic risk variants and characterize immune responses associated with PFAPA and related disorders.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• Indiana University School of Medicine
  Indianapolis, Indiana, United States Recruiting
• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting
• Children's National Medical Center
  Washington D.C., District of Columbia, United States Not yet recruiting

Study contacts

• Principal investigator: Kalpana Manthiram, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
• Study coordinator: Mary T Bowes
• Email: mbowes@cc.nih.gov
• Phone: (240) 408-0970

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Nightly wearable monitoring with at-home submental electrical stimulation for sleep apnea

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.