Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
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ClinicalTrials.gov Identifier: NCT05656365 |
Recruitment Status :
Recruiting
First Posted : December 19, 2022
Last Update Posted : May 8, 2024
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Tracking Information | |||||||||||||||||||
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First Submitted Date | December 15, 2022 | ||||||||||||||||||
First Posted Date | December 19, 2022 | ||||||||||||||||||
Last Update Posted Date | May 8, 2024 | ||||||||||||||||||
Actual Study Start Date | May 23, 2023 | ||||||||||||||||||
Estimated Primary Completion Date | June 30, 2037 (Final data collection date for primary outcome measure) | ||||||||||||||||||
Current Primary Outcome Measures |
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Original Primary Outcome Measures | Same as current | ||||||||||||||||||
Change History | |||||||||||||||||||
Current Secondary Outcome Measures |
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Original Secondary Outcome Measures | Same as current | ||||||||||||||||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||||||||||||||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||||||||||||||||
Descriptive Information | |||||||||||||||||||
Brief Title | Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders | ||||||||||||||||||
Official Title | Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders | ||||||||||||||||||
Brief Summary | 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. |
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Detailed Description | Study Description: The purpose of this multisite study is to collect specimens and data from patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome and other tonsil disorders for genetic, immunologic, cellular, molecular, and microbial research into the pathogenesis of these conditions. Specimens include blood, saliva, buccal swabs, oropharyngeal swabs, nasopharyngeal swabs, nasopharyngeal wash, and/or stool. If a participant is scheduled to undergo a clinically indicated tonsillectomy and/or adenoidectomy, then leftover clinical specimens will also be collected for research. Participants may either be seen in person at the study sites or may be seen remotely via telehealth and provide send-in samples collected locally. Primary Objective: To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders. Primary Endpoints:
Secondary Objective: To understand the characteristics and function of unique cell populations in the pharyngeal lymphoid tissues (tonsils and adenoids) and how immune responses to antigens are generated in these tissues. Secondary Endpoints:
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Study Type | Observational | ||||||||||||||||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||||||||||||||||
Biospecimen | Not Provided | ||||||||||||||||||
Sampling Method | Non-Probability Sample | ||||||||||||||||||
Study Population | Patients diagnosed with PFAPA and other tonsil disorders. | ||||||||||||||||||
Condition |
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Intervention | Not Provided | ||||||||||||||||||
Study Groups/Cohorts | Patients
Patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome and other tonsil disorders.
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||||||||||||
Recruitment Status | Recruiting | ||||||||||||||||||
Estimated Enrollment |
1500 | ||||||||||||||||||
Original Estimated Enrollment | Same as current | ||||||||||||||||||
Estimated Study Completion Date | December 31, 2038 | ||||||||||||||||||
Estimated Primary Completion Date | June 30, 2037 (Final data collection date for primary outcome measure) | ||||||||||||||||||
Eligibility Criteria |
Participants must meet all the following inclusion criteria to be eligible for this study:
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. |
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Sex/Gender |
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Ages | 1 Month to 99 Years (Child, Adult, Older Adult) | ||||||||||||||||||
Accepts Healthy Volunteers | No | ||||||||||||||||||
Contacts |
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Listed Location Countries | United States | ||||||||||||||||||
Removed Location Countries | |||||||||||||||||||
Administrative Information | |||||||||||||||||||
NCT Number | NCT05656365 | ||||||||||||||||||
Other Study ID Numbers | 10001043 001043-I |
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Has Data Monitoring Committee | Not Provided | ||||||||||||||||||
U.S. FDA-regulated Product |
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IPD Sharing Statement |
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Current Responsible Party | National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ) | ||||||||||||||||||
Original Responsible Party | Same as current | ||||||||||||||||||
Current Study Sponsor | National Institute of Allergy and Infectious Diseases (NIAID) | ||||||||||||||||||
Original Study Sponsor | Same as current | ||||||||||||||||||
Collaborators | Not Provided | ||||||||||||||||||
Investigators |
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PRS Account | National Institutes of Health Clinical Center (CC) | ||||||||||||||||||
Verification Date | May 2, 2024 |