Clinical Research Directory

Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease

Background: \- The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses. Objective: -To see what happens to people with melorheostosis over time and understand the causes of the disease. Eligibility: * People 18 and over with melorheostosis. * Their unaffected relatives. Design: * All participants will have a medical history and physical exam. * Participants who are relatives will give samples of blood or cheek cells. * Other participants will be in the study for about 1 week. * They will have blood and urine collected. * Strength, walking, and range of motion will be measured. * Participants may also have * X-rays and scans. * A pain and neurological evaluation. * Their skin evaluated by a dermatologist. * A small sample of bone taken. * Nerve conduction studies. Small electrodes with to wires will be put on the skin. A metal probe will give a small electrical shock. * Electromyography. A thin needle will be placed into the muscles. * An ultrasound, which uses sound waves to examine the muscles and nerves. An ultrasound probe will be placed over the skin. * A bone scan. They will get a small amount of radioactive fluid through a needle in an arm vein. This fluid travels to the bones. The bones will be photographed in a machine. * Bone Densitometry, a low-level x-ray. * Photographs taken. * A small circle of skin removed with a surgical instrument. * Questionnaires about their quality of life. * Participants will be asked to return about every 2 years. At these visits, participants may have blood and urine tests and x-rays.

Immunosuppressant Management in Rheumatology Patients Undergoing Elective Total Shoulder Arthroplasty

The purpose of this study is to assess the incidence of rheumatologic flares, changes in pain scores (VAS), changes in functional outcomes (PROMIS), wound complications, surgical site infections, and return trips to the operating room for rheumatology patients following shoulder replacements, comparing those who stop their immunosuppressants preoperatively for the same amount of time as suggested in the literature for hip and knee arthroplasty versus those who hold the medications for a shorter period of time preoperatively.

Autoimmune and Autoinflammatory Genetics Study

This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or buccal samples may be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, and a small number of subjects may undergo skin biopsy.

Gemelli Longitudinal Cohort on Long-term Outcomes in RheumatIc diseAses

Chronic rheumatic diseases (CRDs) are major determinant of disability in the general population. Particularly, immune-mediated CRDs also represent a significant cause of morbidity and mortality among younger individuals. CRDs lead to substantial direct costs related to healthcare service use and pharmacological expenses, as well as indirect social costs. Proper prognostic stratification of CRD patients could tailor diagnostic and therapeutic interventions to improve clinical outcomes and strategically allocate healthcare resources while minimizing both direct and indirect costs. Reported prognostic predictors in CRDs are largely derived from randomized therapeutic trials and therefore mostly reflect short-term outcomes under controlled experimental conditions. A real-life research could provide crucial information about long-term outcomes including survival, impact of comorbidities and polypharmacotherapy, and inform on healthcare costs. The Gemelli longitudinal cohort on Long-term Outcomes in Rheumatic Diseases (GLORIA) aims to define shared and disease-specific predictors of long-term disability, organ damage, mortality, and healthcare costs for patients under the care of the Division of Rheumatology at the Fondazione Policlinico Universitario A. Gemelli IRCCS - Catholic University of the Sacred Heart in Rome. This study will adopt an electronic database identified for collecting and analyze data (REDcap Research Electronic Data Capture platform), compliant with general data protection regulation (GDPR) law. Predictors will be selected from routinely collected demographic, clinical, laboratory, histological, and instrumental data. Additional blood samples may be collected from newly diagnosed patients or when diagnostic or therapeutic interventions are required according to clinical practice. Excepted for additional collection of peripheral blood, no additional procedure will be therefore performed.