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Hemifacial Atrophy (HFA; Parry-Romberg Syndrome): A prospective study on medical management and disease progression using 3D imaging techniques

What is the goal of the study? Dr. Dedeoglu and her collegues aim to show this new 3D imaging technique will show facial and scalp changes accurately over time to monitor disease activity and treatment response. 

How do you Participate? Participants will consent to provide clinical data, which will be kept in the registry. Interested patients may also provide a biosample for 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

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

Continuous Temperature Monitoring in PFAPA

What is the goal of the study? PFAPA is a childhood periodic fever syndrome manifested by recurrent fevers, mouth ulcers, sore throat, and swollen glands. The episodes last about 4 days, and recur every month “like clockwork.” It is the most common periodic fever syndrome of childhood. Unfortunately, there are no diagnostic tests for PFAPA, and the cause remains unknown. Distinguishing PFAPA fevers from those due to viral infections is difficult, causing delays in diagnosis of months to years.We are hoping the results of this study will allow doctors to make faster and more accurate diagnoses of PFAPA.

How do you participate? We are asking participants to wear a small plastic thermometer under the arm, which will automatically record temperatures for a few days before, during, and after a fever flare. The thermometer will connect to your iPhone via Bluetooth to transfer the temperature data. Data will be sent anonymously to a protected online database, which will be accessible to members of the research staff. For more information, please visit our study website: PFAPAstudy.com.

Study Coordinator: Ed Anderson

Email: edwin.anderson@childrens.harvard.edu

Phone: 617-355-6117