[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rheumatic-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rheumatic-disease":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,43,81],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100247845","natural-history-pathogenesis-and-outcome-of-melorheostosis-a-rare-osteosclerotic-disease-100247845",false,"NCT02504879","Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease","Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease","* INCLUSION CRITERIA:\n\nAll eligible patients are invited to participate in this protocol. Patients are adults aged \\> 18 years with possible melorheostosis (suspected or confirmed). Since both men and women are affected with the disease, both sexes will be studied. All ethnic and racial groups are at risk and will be included.\n\nRelatives of patients with melorheostosis may be included for genetic testing only.\n\nEXCLUSION CRITERIA:\n\n* Pregnant or lactating women. A pregnancy test is performed in women of childbearing potential (up to age 55) unless they have a history of hysterectomy or tubal ligation.\n* Children (age less than 18 years) are excluded.\n* Subjects with severe active infection or other co-morbidities that in the opinion of the investigator would warrant exclusion.\n* Subjects unable to provide informed consent.","ALL","18 Years","90 Years",{"count":20,"type":21},350,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- 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.\n\nObjective:\n\n-To see what happens to people with melorheostosis over time and understand the causes of the disease.\n\nEligibility:\n\n* People 18 and over with melorheostosis.\n* Their unaffected relatives.\n\nDesign:\n\n* All participants will have a medical history and physical exam.\n* Participants who are relatives will give samples of blood or cheek cells.\n* Other participants will be in the study for about 1 week.\n* They will have blood and urine collected.\n* Strength, walking, and range of motion will be measured.\n* Participants may also have\n* X-rays and scans.\n* A pain and neurological evaluation.\n* Their skin evaluated by a dermatologist.\n* A small sample of bone taken.\n* Nerve conduction studies. Small electrodes with to wires will be put on the skin. A metal probe will give a small electrical shock.\n* Electromyography. A thin needle will be placed into the muscles.\n* An ultrasound, which uses sound waves to examine the muscles and nerves. An ultrasound probe will be placed over the skin.\n* 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.\n* Bone Densitometry, a low-level x-ray.\n* Photographs taken.\n* A small circle of skin removed with a surgical instrument.\n* Questionnaires about their quality of life.\n* Participants will be asked to return about every 2 years. At these visits, participants may have blood and urine tests and x-rays.",[25],"Rheumatic Disease",[27,28,29],"Osteosclerosis","Hyperostosis","Natural History","RECRUITING","2026-06-17",{"date":33,"type":34},"2026-06-18","ACTUAL",{"date":36,"type":34},"2015-08-16",{"date":38,"type":21},"2030-07-01",{"name":40,"class":41},"National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)","NIH",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":49,"targetDuration":4,"studyType":51,"phases":52,"briefSummary":54,"conditions":55,"keywords":56,"overallStatus":70,"whyStopped":4,"lastUpdateSubmitDate":71,"lastUpdatePostDateStruct":72,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":42},"100603621","phase-2-immunosuppressant-management-in-rheumatology-patients-undergoing-elective-total-shoulder-arthroplasty-100603621","NCT07138898","Immunosuppressant Management in Rheumatology Patients Undergoing Elective Total Shoulder Arthroplasty","Inclusion Criteria:\n\n1. Adults aged 18 years and older at the time of informed consent;\n2. Diagnosis of rheumatic disease: rheumatoid arthritis (RA), psoriatic arthritis (PA) , ankylosing spondylitis (AS), systemic lupus erythematosus (SLE), juvenile idiopathic arthritis (JIA), spondyloarthritis, polymyalgia rheumatica, giant cell arteritis, vasculitis, granulomatosis with polyangiitis, dermatomyositis, polymyositis, and inflammatory bowel disease-associated arthritis;\n3. On active immunosuppression for at least 3 months prior to scheduled surgery;\n4. Scheduled for elective total shoulder arthroplasty;\n5. Able and willing to provide written informed consent prior to any study specific procedures.\n\nExclusion Criteria:\n\n* Patients with active infections or malignancies;\n* Patients undergoing shoulder arthroplasty for fracture or tumor;\n* Pregnancy or breastfeeding;\n* Unable to provide informed consent;\n* Patients with severe SLE with marked activity - as they should be offered enrollment in the observational arm. All such patients should remain on treatment to avoid worsening of disease activity;\n* Unable or without capacity to provide written informed consent prior to any study specific procedures.",{"count":50,"type":21},80,"INTERVENTIONAL",[53],"PHASE2","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.",[25],[57,58,59,60,61,62,63,64,65,66,67,68,69],"rheumatoid arthritis","psoriatic arthritis","ankylosing spondylitis","systemic lupus erythematosus","juvenile idiopathic arthritis","spondyloarthritis","polymyalgia rheumatica","giant cell arteritis","vasculitis","granulomatosis with polyangiitis","dermatomyositis","polymyositis","inflammatory bowel disease-associated arthritis","NOT_YET_RECRUITING","2025-08-18",{"date":73,"type":34},"2025-08-24",{"date":75,"type":21},"2025-09",{"date":77,"type":21},"2027-09",{"name":79,"class":80},"NYU Langone Health","OTHER",{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":86,"acronym":4,"eligibilityCriteria":87,"healthyVolunteers":88,"sex":16,"minAge":89,"maxAge":4,"enrollmentInfo":90,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":92,"conditions":93,"keywords":97,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":107},"100516425","autoimmune-and-autoinflammatory-genetics-study-100516425","NCT06004349","Autoimmune and Autoinflammatory Genetics Study","Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes","Inclusion Criteria:\n\nIn order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n* Stated willingness to participate in study procedures (which at the very least includes providing a mail-in blood or saliva sample for genetic analysis);\n* Regardless of sex assigned at birth, at least one month of age;\n* A medical history that, in the expert opinion of the PI and study team, is consistent with the possibility of autoinflammatory disease or known diagnosis of an autoinflammatory disease, such as VEXAS syndrome; and\n* Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n* Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n* Regardless of sex assigned at birth, at least one month of age;\n* Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;\n* Likelihood, in the expert opinion of the PI and study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and\n* Ability of the subject, parents (in the case of children), to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:\n\n* Stated willingness to participate in study procedures for healthy volunteers;\n* Regardless of sex assigned at birth, at least five years old, and not pregnant (by history of a missed menstrual period);\n* Likelihood, in the expert opinion of the PI that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and\n* Ability of the subject to understand and the willingness to sign a written informed consent document by a capacity assessment provided by the PI and study team.\n\nExclusion Criteria:\n\nFor any of the three categories of subjects, an individual will be excluded from participation in this study for the following reasons:\n\nProbands: an individual will not be enrolled as a proband if the study team has a low suspicion of having an autoinflammatory disease or a genetic cause for an autoinflammatory disease.\n\nFamily Members: an individual will not be enrolled as a family member if the study team believes they may have an autoinflammatory disease, in which case, they will be enrolled as a proband.\n\nHealthy controls: an individual will not be enrolled as a healthy control if they have an autoinflammatory disease, or any condition that may mimic an autoinflammatory disease, such as hematologic malignancy, rheumatologic disease.",true,"1 Month",{"count":91,"type":21},1500,"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.",[94,95,96,25],"VEXAS Syndome","Autoinflammatory Disease","Autoimmune Disease",[98],"VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)","2025-07-08",{"date":101,"type":34},"2025-07-09",{"date":103,"type":34},"2022-04-15",{"date":105,"type":21},"2032-04-05",{"name":79,"class":80},2]