Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT05656365 |
Recruitment Status :
Recruiting
First Posted : December 19, 2022
Last Update Posted : March 25, 2024
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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.
Condition or disease |
---|
Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Cervical Adenitis (Pfapa) Obstructive Sleep Apnea Tonsillitis Tonsil Disorder Sleep Disordered Breathing |
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:
- Identify genetic risk variants for PFAPA and other tonsil disorders.
- Characterize immune cell populations, gene expression (including at the single-cell level), epigenetic features, and protein expression ex vivo in blood, tissue, washes, or swabs from people with PFAPA and other tonsil disorders.
- Characterize the tonsillar/adenoid, oral, nasal and/or stool microbiota in people with PFAPA and other tonsil disorders.
- Characterize clinical outcomes following tonsillectomy and other clinically indicated treatments.
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:
- Study responses to antigens and infection in the mucosal lymphoid tissue and peripheral blood.
- Characterize unique immune cell populations present in the mucosal tissue.
- Characterize immunologic and molecular pathways in the tissue cells.
Study Type : | Observational |
Estimated Enrollment : | 1500 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders |
Actual Study Start Date : | May 23, 2023 |
Estimated Primary Completion Date : | June 30, 2037 |
Estimated Study Completion Date : | December 31, 2038 |
Group/Cohort |
---|
Patients
Patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome and other tonsil disorders.
|
- Identify genetic risk variants for PFAPA and other tonsil disorders [ Time Frame: Throughout study ]To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders
- Characterize clinical outcomes following tonsillectomy and other clinically indicated treatments. [ Time Frame: Throughout study ]To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders
- Characterize the tonsillar/adenoid, oral, nasal and/or stool microbiota in people with PFAPA and other tonsil disorders [ Time Frame: Throughout study ]To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders
- Characterize immune cell populations, gene expression including at the single cell level, epigenetic features, and protein expression ex vivo in blood, tissue, washes, or swabs from people with PFAPA and other tonsil disorders [ Time Frame: Throughout study ]To collect samples to understand the immunologic mechanisms and genetic and microbial risk factors for PFAPA and other tonsil disorders
- Characterize immunologic and molecular pathways in the tissue cells. [ Time Frame: Throughout study ]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
- Study responses to antigens and infection in the mucosal lymphoid tissue and peripheral blood. [ Time Frame: Throughout study ]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
- Characterize unique cell populations and the immunologic and molecular pathways in the tissue cells [ Time Frame: Throughout study ]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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 1 Month to 99 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA:
Participants must meet all the following inclusion criteria to be eligible for this study:
- Aged >=1 month. To be seen at the NIH CC, participants must be >=3 years of age.
- Diagnosed with PFAPA or another tonsil disorder, or has symptoms consistent with these conditions, as determined by the investigator.
- 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).
- Willing to allow specimens and data to be stored for future research.
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05656365
Contact: Mary T Bowes | (240) 408-0970 | mbowes@cc.nih.gov | |
Contact: Kalpana Manthiram, M.D. | (301) 529-4787 | kalpana.manthiram@nih.gov |
United States, District of Columbia | |
Children's National Medical Center | Not yet recruiting |
Washington, District of Columbia, United States, 20010 | |
Contact: Srinivasalu Hemalatha 202-476-2800 HSriniva@childrensnational.org | |
United States, Indiana | |
Indiana University School of Medicine | Recruiting |
Indianapolis, Indiana, United States, 46290 | |
Contact: Rachel Lemont 317-944-7260 rlemont@iu.edu | |
Contact: Annette Childress (317) 944-7260 afoti@iu.edu | |
United States, Maryland | |
National Institutes of Health Clinical Center | Recruiting |
Bethesda, Maryland, United States, 20892 | |
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 ccopr@nih.gov | |
Contact: Mary Bowes (240) 408-0970 mbowes@cc.nih.gov |
Principal Investigator: | Kalpana Manthiram, M.D. | National Institute of Allergy and Infectious Diseases (NIAID) |
Publications:
Responsible Party: | National Institute of Allergy and Infectious Diseases (NIAID) |
ClinicalTrials.gov Identifier: | NCT05656365 |
Other Study ID Numbers: |
10001043 001043-I |
First Posted: | December 19, 2022 Key Record Dates |
Last Update Posted: | March 25, 2024 |
Last Verified: | March 21, 2024 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | .Deidentified IPD that underlie results in a publication or associated with genomic data deposited in a data base will be shared. |
Supporting Materials: |
Study Protocol Statistical Analysis Plan (SAP) Informed Consent Form (ICF) Clinical Study Report (CSR) Analytic Code |
Time Frame: | Will be shared at the time of publication or data deposition into data base. |
Access Criteria: | Individual level data in dbGaP is controlled access as investigators must place a request and be approved by dbGaP. Aggregated data will be open access. |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Genome-Wide Association Study (Gwas) Immunology Autoinflammation Tonsillitis |
Obstructive Sleep Apnea Sleep Disordered Breathing Natural History |
Hereditary Autoinflammatory Diseases Pharyngitis Tonsillitis Stomatitis Stomatitis, Aphthous Sleep Apnea Syndromes Sleep Apnea, Obstructive Respiratory Aspiration Lymphadenitis Familial Mediterranean Fever Amyloidosis Fever Apnea Respiration Disorders Respiratory Tract Diseases |
Sleep Disorders, Intrinsic Dyssomnias Sleep Wake Disorders Nervous System Diseases Pathologic Processes Body Temperature Changes Mouth Diseases Stomatognathic Diseases Respiratory Tract Infections Infections Pharyngeal Diseases Otorhinolaryngologic Diseases Genetic Diseases, Inborn Proteostasis Deficiencies Metabolic Diseases |