Research

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Periodic Fever Syndromes/Autoinflammatory Diseases

Systematic Study of Patients with Autoinflammatory Conditions

What is the goal of the study? One of the major aims of this study is to discover as-yet-undefined conditions through recognition of clinical and biological patterns. Participating patients with an autoinflammatory condition, such as a periodic fever syndrome, will be enrolled in a registry that facilitates a systematic approach to the evaluation of patients with periodic fevers. The goal is to identify both known and novel genetic mutations in patients with autoinflammatory conditions.

How do you Participate? Participants will consent to provide clinical data, which will be kept in the registry. Interested patients may also provide a single blood sample for genetic analysis. For more information, ask your Rheumatologist or contact the study coordinator.

Study Coordinator: Ed Anderson

Email: edwin.anderson@childrens.harvard.edu

Phone: 617-355-6117

Clinical and Biological Phenotyping of Periodic Fever, Aphthous Stomatitis, Pharyngitis,Cervical Adenetis (PFAPA) Syndrome

What is the goal of the study? PFAPA is fairly common autoinflammatory disease that can be difficult to diagnose. Currently, we do not have specific tests to diagnose PFAPA, instead we rely on clinical history and symptoms. To complicate matters, individual patients may not carry all the features of the disease. Our goals are to understand the spectrum of the syndrome and identify specific markers to help diagnose it. Enrolled patients will work with Dr. Dedeoglu and Drs. Greg Licameli and Margaret Kenna from Otolaryngology to help us further characterize PFAPA. 

How do you Participate? Patients with clinically diagnosed PFAPA are eligible to participate. Consenting subjects will provide clinical data about their condition. Tissue samples (i.e. tissue from tonsils) that are left over after a surgery and not used for clinical purposes may also be collected through this study. For more information, ask your Rheumatologist or contact the study coordinator.

Study Coordinator: Ed Anderson

Email: edwin.anderson@childrens.harvard.edu

Phone: 617-355-6117

Microbiome in Familial Mediterranean Fever(FMF)

What is the goal of the study? The presentation of FMF can be variable, even in family members with the same genetic mutation. This observation suggests that the environment may play a role in shaping the clinical symptoms that FMF patients experience. We hypothesize that this variability may be due to the microbiome or the bacteria that live in the gut of each person. In collaboration with our international colleagues from Turkey, we aim to compare the microbiomes of patients with FMF to those of healthy controls as well as the microbiomes of FMF patients living in different geographic areas.

 How do you participate? Patients who are older than 3 years of age and diagnosed with FMF carrying certain mutations are eligible to participate. Enrolled patients will provide clinical data and a stool sample. For more information, ask your Rheumatologist or contact the study coordinator.

Study Coordinator: Ed Anderson

Email: edwin.anderson@childrens.harvard.edu

Phone: 617-355-6117

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