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

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

This study is trying to understand the genetics and immune responses in people with PFAPA syndrome and tonsil problems by collecting and analyzing blood and other samples.

Quick facts

• Study type: Observational
• Enrollment: 1500 (estimated)
• Ages: 1 Month to 99 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 3 sites (Washington D.C., District of Columbia and 2 other locations)
• Trial ID: NCT05656365 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 1 month or older who exhibit symptoms of PFAPA or other tonsil disorders.

Not a fit: Patients with conditions that may pose undue risk or make them unsuitable for participation will not benefit from this study.

Why it matters

Potential benefit: If successful, this research could lead to a better understanding of PFAPA and tonsil disorders, potentially improving diagnosis and treatment options for affected patients.

How similar studies have performed: While this study focuses on PFAPA and tonsil disorders, similar genetic and immunological studies have shown promise in understanding other periodic fever syndromes.

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.

Where this trial is running

Washington D.C., District of Columbia and 2 other locations

• Children's National Medical Center — Washington D.C., District of Columbia, United States (NOT_YET_RECRUITING)
• Indiana University School of Medicine — Indianapolis, Indiana, United States (RECRUITING)
• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)

Study contacts

• Principal investigator: Kalpana Manthiram, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
• Study coordinator: Mary T Bowes

Conditions: Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Cervical Adenitis, Obstructive Sleep Apnea, Tonsillitis, Tonsil Disorder, Sleep Disordered Breathing, Genome-Wide Association Study, Immunology, Autoinflammation