RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2023-05-23
Study Completion:2038-12-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05656365

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Month to 99 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Aged \>=1 month. To be seen at the NIH CC, participants must be \>=3 years of age.
  2. 2. Diagnosed with PFAPA or another tonsil disorder, or has symptoms consistent with these conditions, as determined by the investigator.
  3. 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. 4. Willing to allow specimens and data to be stored for future research.
  5. 5. Willing to allow genetic testing on their biospecimens.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Mary T Bowes
CONTACT
(240) 408-0970
mbowes@cc.nih.gov
Kalpana Manthiram, M.D.
CONTACT
(301) 529-4787
kalpana.manthiram@nih.gov

Principal Investigator

Kalpana Manthiram, M.D.
PRINCIPAL_INVESTIGATOR
National Institute of Allergy and Infectious Diseases (NIAID)

Study Locations (Sites)

Children's National Medical Center
Washington, District of Columbia, 20010
United States
Indiana University School of Medicine
Indianapolis, Indiana, 46290
United States
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

  • Kalpana Manthiram, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-05-23
Study Completion Date2038-12-31

Study Record Updates

Study Start Date2023-05-23
Study Completion Date2038-12-31

Terms related to this study

Keywords Provided by Researchers

  • Genome-Wide Association Study (Gwas)
  • Immunology
  • Autoinflammation
  • Tonsillitis
  • Obstructive Sleep Apnea
  • Sleep Disordered Breathing
  • Natural History

Additional Relevant MeSH Terms

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