[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"National Institute of Dental and Craniofacial Research (NIDCR)\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":282},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,10,0,[8,46,71,98,117,151,176,197,226,254],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":28,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100234290","characterization-of-diseases-with-salivary-gland-involvement-100234290",false,"NCT02327884","Characterization of Diseases With Salivary Gland Involvement","* INCLUSION CRITERIA:\n* Persons older than 4 years of age, affected with or suspected of being affected with a disease\u002Fdisorder involving the salivary glands or who is a relative of a person who is affected with these diseases\u002Fdisorders.\n\nOr,\n\n\\- Persons 18 years or older with active hepatitis with or without sicca symptoms and patients undergoing immunotherapy with an immune checkpoint inhibitor for oral cancer.\n\nSpecific to patients undergoing immunotherapy with an immune checkpoint inhibitor for threatment of oral cancer, these patients will be seen before and after check point inhibitor therapy which will coincide with 4 weeks (+\u002F-2 weeks) before and again immediately before (+\u002F- 2 weeks) definitive oral cancer treatment initiation (e.g., surgical resection, etc.).\n\nOr,\n\n\\- Healthy persons age 18 or older, who agree to have blood, urine, saliva or tissue samples collected and studied.\n\nEXCLUSION CRITERIA:\n\n* Anyone not able to give consent\u002Fassent or parental\u002Fguardian consent\n* NIH employees who report directly to the principal investigator\n* Significant concurrent medical condition or other circumstances that may affect the participant s ability to tolerate or complete the study, such as concurrent chemotherapy or bleeding disorders.\n\n  * Specific only to the immune checkpoint inhibitor patients, oral cancer as a serious concurrent medical condition, will not serve as an exclusion criteria.\n  * Moreover, these immune checkpoint inhibitor subjects, if unable to tolerate the study procedures, such as salivary gland biopsies, saliva collections, and\u002For oral exams, will be excluded as determined by the Principal Investigator.\n* Additional exclusion criteria for Healthy Volunteers (HV):\n\n  * Pregnancy\n  * Sicca Symptoms\n  * HIV, hepatitis B or C infection\n  * Chronic medical illness, other than well-controlled hypertension or hyperlipidemia\n  * Chronic use of medications, with the exception of oral contraception, hormone replacement therapy, aspirin, antihypertensives and antilipemics",true,"ALL","4 Years","100 Years",{"count":20,"type":21},1150,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- Salivary glands in and around the mouth and throat make saliva. Salivary gland disorders can affect a person s quality of life. Studying people who have a disease that affects their salivary gland(s) may teach researchers about the disorders and their genetics.\n\nObjectives:\n\n\\- To study salivary gland diseases and disorders. To collect data and samples from people with salivary gland problems and their relatives.\n\nEligibility:\n\n* People more than 4 years old who have or are suspected to have a disease involving salivary glands.\n* Their relatives more than 4 years old.\n* Healthy volunteers 18 years or older.\n\nDesign:\n\n* Participants may be screened with:\n* Medical history\n* Physical exam\n* Blood and urine tests\n* General oral and dental history and exam\n* Saliva collection\n* Eye exam and test for dry eyes\n* Health questionnaires (adults)\n* Biopsy of some minor salivary glands. A small incision will be made on the inside of the lower lip and several tiny salivary glands will be removed.\n* Participants will have 2-3 visits. These may include:\n* Repeats of some screening tests\n* Ultrasounds of some glands. Researchers will put some gel on the face, then press on it with a smooth wand.\n* Adults may have other biopsies\n* A small catheter inserted into the opening of the parotid gland duct on the inside of the cheek. A saline solution (in a syringe) will fill the duct.\n* Swishing a saltwater solution in the mouth for 10 seconds and then spitting into a cup\n* Scrapings collected from teeth, tongue, and cheeks",[25,26,27],"Healthy Volunteer","Sjogren's Syndrome","Salivary Gland Disease",[29,30,26,31,32],"Genetics","Dry Mouth","Gland dysfunction","Induced Pluripotent Stem (iPS) Cell Lines","RECRUITING","2026-06-27",{"date":36,"type":37},"2026-06-30","ACTUAL",{"date":39,"type":37},"2015-04-03",{"date":41,"type":21},"2032-04-01",{"name":43,"class":44},"National Institute of Dental and Craniofacial Research (NIDCR)","NIH",1,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":15,"sex":16,"minAge":52,"maxAge":53,"enrollmentInfo":54,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":56,"conditions":57,"keywords":63,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":67,"startDateStruct":68,"completionDateStruct":4,"leadSponsor":70,"locationsCount":45},"100194349","oral-specimen-and-data-acquisition-study-of-subjects-requiring-third-molar-removal-100194349","NCT01805869","Oral Specimen and Data Acquisition Study of Subjects Requiring Third Molar Removal","* INCLUSION CRITERIA:\n* Ages greater than or equal to 16-50 years\n* Clinical evidence of need for third molar extraction as determined by medical, dental, and radiographic evaluation by a NIDCR oral surgeon\n* Willing to allow for the collection of extracted waste tissue (e.g., teeth, alveolar bone, excessive gingival tissue) to be used for research\n* In good general health as defined by the American Society of Anesthesiologists (ASA) status I or II\n* Able to understand and sign an informed consent\n\nEXCLUSION CRITERIA:\n\n* Pregnant or nursing women\n* Unable to have third molar extraction as determined by NIDCR surgeon\u002Fdentist, due to medical conditions (beyond ASA I or II), complexity of the surgery, or history that precludes safe outpatient conscious sedation. These clinical decisions will be based on the risks and benefits related to the surgery.","16 Years","50 Years",{"count":55,"type":21},3000,"Background:\n\n\\- The third molars (wisdom teeth) normally grow in during late adolescence or early adulthood. Many people need or choose to have these teeth removed with oral surgery. Normally, the removed teeth and tissue are thrown away as medical waste. However, oral health researchers want to collect the teeth and tissue for research. They also want to encourage dentists at the National Institutes of Health to improve their skills in oral surgery. This study will collect the teeth and tissue of people who need to have oral surgery to remove their wisdom teeth.\n\nObjectives:\n\n* To provide continued dental skills training for dentists at the National Institutes of Health.\n* To collect teeth and tissue samples following wisdom tooth removal surgery.\n\nEligibility:\n\n\\- Individuals between 16 and 50 who need to have their wisdom teeth removed.\n\nDesign:\n\n* This study will involve a minimum of three visits. There will be a screening visit, a surgery visit, and at least one follow-up visit.\n* Participants will be screened with a physical exam and medical history. A full dental exam with x-rays will be given to evaluate the need for surgery.\n* At the second visit, participants will have oral surgery to remove their wisdom teeth. The teeth and tissue removed during the surgery will be collected for study.\n* Participants will receive drugs to control the pain after surgery. They will also be able to contact a dentist if there are any problems.\n* Between 7 and 21 days after surgery, participants will have a followup visit to check the healing. If they are having no problems, this will be the last visit. If there are any postsurgery issues, they will be scheduled for additional visits as needed.",[58,59,60,61,62],"Stomatognatic","Tooth Diseases","Diseases","Tooth","Tooth Impaction",[64,65,66],"Third Molar","Specimen Acquisition","Natural History",{"date":36,"type":37},{"date":69,"type":37},"2013-06-19",{"name":43,"class":44},{"id":72,"slug":73,"hasResults":11,"nctId":74,"briefTitle":75,"officialTitle":76,"acronym":4,"eligibilityCriteria":77,"healthyVolunteers":15,"sex":16,"minAge":78,"maxAge":18,"enrollmentInfo":79,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":81,"conditions":82,"keywords":86,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":94,"startDateStruct":95,"completionDateStruct":4,"leadSponsor":97,"locationsCount":45},"100176270","oral-bacteria-and-immune-system-problems-involved-in-gum-disease-periodontitis-100176270","NCT01568697","Oral Bacteria and Immune System Problems Involved in Gum Disease (Periodontitis)","Oral Microbial and Immunological Characterization of Patients With Immune Dysfunction","* INCLUSION CRITERIA:\n\nSubjects with Genetic Immune Defects:\n\nPatients with a known genetic immune defect will be eligible for screening inclusion under this protocol.\n\n* Diagnosed with a genetic immune defect\n* Willing to allow genetic testing\n\n  * 7 years old\n\nSubjects with Severe Periodontitis of Suspected Genetic Etiology:\n\n* History of severe periodontitis prior to age \\\u003C30\n* Willing to allow genetic testing\n\n  -\\>=7 years old\n* In good general health\n\nFamily members of Subjects with Severe Periodontitis of Suspected Genetic Etiology:\n\n-Willing to allow genetic testing\n\n-\\>=7 years old\n\nHealthy Volunteer Subjects (with\u002Fwithout periodontitis):\n\n* In good general health\n\n  -\\>=18 years old\n* Willing to allow genetic testing\n* Have a minimum of 20 natural teeth\n\nInclusion Criteria for Natural History phase, all subjects:\n\n* Diagnosis of genetic immune defect\n* Presence of oral manifestation (primarily periodontitis)\n\nCriteria for standard of care treatment:\n\n* Active untreated disease (visible signs of tissue inflammation including erythema\u002Fedema, generalized bleeding upon probing)\n* Periodontal disease defined as bone loss of \\>=5mm as measured on periodontal exam.\n\nEXCLUSION CRITERIA:\n\nAll Subjects:\n\n* History of Hepatitis B or C\n* History of HIV\n* Prior radiation therapy to the head or neck\n* Have an active malignancy except localized basal or squamous cell carcinoma of the skin\n* Have been treated with systemic chemotherapeutics or radiation therapy within 5 years of screening\n* Pregnant or lactating\n* If participation in the protocol would not be safe or in the subject s best interest in the opinion of either the PI or the primary medical team.\n\nAdditional Exclusions for Healthy Volunteers:\n\n* Diagnosis of diabetes and\u002For HbA1C level \\>6%\n* More than 3 hospitalizations in the last 3years\n* Have an autoimmune disorder such as Lupus, Rheumatoid arthritis, etc.\n* In the 3 months before study enrollment, have used any of the following:\n\n  * Systemic (intravenous, intramuscular, or oral) antibiotics\n  * Oral, intravenous, intramuscular, intranasal, or inhaled corticosteroids or other immunosuppressants (e.g., cyclosporine)\n  * Cytokine therapy\n  * Methotrexate or immunosuppressive chemotherapeutic agents\n  * Large doses of commercial probiotics (\\>=10\\^8 colony-forming units or organisms per day); includes tablets, capsules, lozenges, chewing gum, or powders in which a probiotic is a primary component; ordinary dietary components such as fermented beverages\u002Fmilks, yogurts, and foods do not apply\n* Have used tobacco products (including e-cigarettes) within 1 year of screening\n* Unwillingness to consent to oral biopsy\n* NIH employees working in the Oral Immunity and Inflammation Unit and members of the Clinical Research Core Team will not be eligible for enrollment.\n\nAdditional Exclusions for Standard of Care Treatment at NIH:\n\n* Mild\u002Fmoderate non-active disease (absence of active inflammatory lesions)\n* Subjects with urgent\u002Fcomplex restorative needs (ex. severe active carious lesions\u002Ffractured dentition)\n* Subjects in need for advanced prosthetic needs (including implants and restorations)","7 Years",{"count":80,"type":21},700,"Background:\n\n\\- Gum disease is a condition in which the tissue around the tooth root becomes swollen and infected. This condition can cause tooth loss if it is not treated. Who gets gum disease and how bad it will be depends on (1) the different bacteria in the mouth and (2) how the immune system of an individual handles these bacteria. Researchers want to look at the oral bacteria and genetic immune problems of different people to learn how these affect gum disease and other conditions of the mouth.\n\nObjectives:\n\n\\- To study how immune system problems may lead to problems in the mouth, including gum disease.\n\nEligibility:\n\n* Children and adults at least 7 years of age who have genetic problems with their immune system.\n* Healthy adults that have periodontal disease\n* Health adults that do not have periodontal disease\n\nDesign:\n\n* This study will involve a screening visit and a study visit.\n* Participants will be screened with a medical history, blood work and a full oral and dental exam, including dental x-rays and photos.\n* The study visit will involve collection of blood, urine, and other samples, including saliva, plaque, and gum swabs. Any abnormal tissue will sampled for a biopsy. Additional oral and dental exams will be performed. Participants will also answer questions about any current medical or dental problems.",[83,84,85,25],"Immunosuppression","Periodontal Disease","Healthy Subjects",[87,88,89,90,66,91,84,92,25,93],"Microbiome","Periodontitis","Oral Mucosal Immunity","Oral Infection","Immune Disorder","Gum Disease","HV",{"date":36,"type":37},{"date":96,"type":37},"2012-10-05",{"name":43,"class":44},{"id":99,"slug":100,"hasResults":11,"nctId":101,"briefTitle":102,"officialTitle":102,"acronym":4,"eligibilityCriteria":103,"healthyVolunteers":11,"sex":16,"minAge":104,"maxAge":18,"enrollmentInfo":105,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":107,"conditions":108,"keywords":110,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":113,"startDateStruct":114,"completionDateStruct":4,"leadSponsor":116,"locationsCount":45},"100054702","screening-and-natural-history-of-patients-with-polyostotic-fibrous-dysplasia-and-the-mccune-albright-syndrome-100054702","NCT00001727","Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome","* INCLUSION CRITERIA\n\n  1. Any patient, age 1 day of life and older, with a likelihood of having PFD or MAS, based on information from an appropriate referring physician or surgeon or provided by the patient or guardian. The diagnosis will be based on typical findings on bone biopsy or on clinical grounds.\n\nEXCLUSION CRITERIA\n\n1. Patient, child, or parent\u002Fguardian unwilling to fully cooperate with the evaluations.\n2. Patient or parent\u002Fguardian unable to provide informed consent.","1 Day",{"count":106,"type":21},500,"Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puberty. The bony lesions are frequently disfiguring, disabling and painful, and depending on the location of the lesion, can cause significant morbidity. Lesions in weight-bearing bones can lead to disabling fractures, while lesions in the skull can lead to compression of vital structures such as cranial nerves.\n\nThe natural history of this disease is poorly described and there are no clearly defined systemic therapies for the bone disease. This is a data collection and specimen acquisition protocol. The purpose of the study is to define the natural history of the disease by following PFD\u002FMAS subjects over time and by using in vitro experimentation with samples\u002Ftissue from subjects with the disease.\n\nStudy Objectives\n\n1. Primary Objective\n\n   Define the natural history of disease by gaining clinical and basic information about PFD\u002FMAS by following subjects clinically and using in vitro experimentation with tissue from subjects with the disease.\n2. Secondary Objective\n\nRefer eligible subjects for enrollment into other appropriate research protocols, if any are currently active.\n\nStudy Population\n\nThe study population will include:\n\n1. Subjects with known or suspected Polyostotic Fibrous Dysplasia (PFD) or in combination with McCune-Albright Syndrome (MAS)\n2. Subjects who meet eligibility criteria will be accepted regardless of gender, race, or ethnicity\n\nDesign\n\nThis study is an observational\u002Fnatural history study of PFD\u002FMAS.\n\nOutcome Measures\n\nPrimary\n\n1. Successfully enroll subjects with PFD or MAS for the collection, evaluation and analysis of data obtained from clinical visits.\n2. Obtain onsite and offsite research tissue (waste tissue) from patients with PFD\u002FMAS that are enrolled onto this study or from individuals with PFD\u002FMAS that are offsite and willing to donate waste tissue to NIH. Research tissue will be used with existing primary cell culture technology (ongoing in our laboratories) to:\n\n   * understand the basic bone biology of the pathologic cell (or cells) involved in the lesions of PFD\u002FMAS\n   * determine the presence or absence of mutated cells at \"uninvolved sites\" to formulate better strategies of predicting the initiation of new lesions, the natural history of lesion progression and\u002For response to therapy\n   * understand osteogenic differentiation, in particular, the role of G(s)alpha in these lesions, which will be transferable to our understanding of bone biology in general\n   * understand the pathophysiology of FD and\u002For endocrine lesions\n   * develop better methods of identifying and expanding unaffected bone cells from patients with PFD in an effort to create better grafting material(s)\n3. Identify and predict clinical and biological behavior of fibrous dysplastic bone lesions based on:\n\n   * stability, rate of growth, rate of change, progression and regression, and development of new lesions\n   * differences between cranial, axial and appendicular lesions\n4. Define the natural history of the multiple endocrinopathies associated with MAS and the response to standard of care medications\n5. Define clinical and biological aspects of the disease not previously identified\n6. Generate future research studies related to PFD alone or in combination with MAS\n\nSecondary\n\n1\\) Successfully enroll eligible subjects into active research protocols applicable to the FD\u002FMAS population....",[109],"McCune-Albright Syndrome",[111,112,66],"Fibrous Dysplasia (FD)","McCune-Albright Syndrome (MAS)",{"date":36,"type":37},{"date":115,"type":37},"1998-12-13",{"name":43,"class":44},{"id":118,"slug":119,"hasResults":11,"nctId":120,"briefTitle":121,"officialTitle":122,"acronym":4,"eligibilityCriteria":123,"healthyVolunteers":11,"sex":16,"minAge":124,"maxAge":125,"enrollmentInfo":126,"targetDuration":4,"studyType":128,"phases":129,"briefSummary":131,"conditions":132,"keywords":133,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":143,"lastUpdatePostDateStruct":144,"startDateStruct":146,"completionDateStruct":148,"leadSponsor":150,"locationsCount":45},"100614581","phase-2-safety-of-tofacitinib-an-oral-janus-kinase-inhibitor-in-primary-sjogren-disease-100614581","NCT07281456","Safety of Tofacitinib, an Oral Janus Kinase Inhibitor, in Primary Sjogren Disease","Safety of Tofacitinib, an Oral Janus Kinase Inhibitor, in Primary Sjogren's Disease Phase IIa Open-Label Clinical Trial and Associated Mechanistic Studies","* INCLUSION CRITERIA:\n\nAdult SjD participants with mild-to-moderate disease activity will be eligible for this study. Enrolled participants can be naive or have failed immunosuppressive therapy beyond antimalarials and glucocorticoids, to prevent bias in the cohort of participants with more recalcitrant disease. We expect that Tofacitinib is a potential second-line therapy, in addition to antimalarials and glucocorticoids, depending on the participant's initial presentation and response. Women and members of minority groups, if eligible, will be included in accordance with the NIH Policy on Inclusion of Women and Minorities as Participants in Research Involving Human Participants.\n\nAdditionally, 20-D-0131(Safety of Tofacitinib, an oral Janus Kinase Inhibitor, in primary Sjogren's syndrome Phase Ib-IIa placebo-controlled clinical trial and associated mechanistic studies) participants who, at unblinding, received a placebo will be contacted and asked to return to the study to participate in this study.\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Ability of participant to understand and the willingness to sign a written informed consent document.\n2. Participation and enrollment in companion protocol, 15-D-0051, Characterization of Diseases with Salivary Gland Involvement.\n3. Stated willingness to comply with all study procedures and availability for the duration of the study\n4. Male or female, aged between 18-75 years old\n5. In good general health as evidenced by medical history\n6. Meets the 2002 American European Consensus Group classification criteria for Sjogren's disease or 2016 American College of Rheumatology\u002FEuropean League against Rheumatism Classification Criteria (ACR-EULAR) with mild to moderate disease activity defined as ESSDAI between 0 and 13 at the screening visit and \\>0 ml\u002Fmin\u002Fgland stimulated saliva flow.\n7. Ability to take oral medication and be willing to adhere to the study intervention regimen\n8. If on glucocorticoids, the dose must be less than 10 mg daily and stable for the 4 weeks (28 days) prior to the screening visit.\n9. If on hydroxychloroquine or other antimalarials such as chloroquine or quinacrine, the dose must have been stable for the 12 weeks (96 days) prior to screening visit. The maximum allowed dose is hydroxychloroquine up to 400 mg\u002Fday or 6.5 mg\u002Fkg\u002Fday if more than 400 mg\u002Fday. The maximum allowed dose for chloroquine phosphate is up to 500 mg daily and for quinacrine up to 100 mg daily.\n10. Participants may be on lipid lowering medications if initiated at least 3 months prior to the screening visit and dose must be stable for 4 weeks (28 days) prior to study entry.\n11. Males and females with potential for reproduction must agree to practice effective birth control measures. Females should be on adequate contraception if they are of child-bearing potential documented by a clinician, unless participants or spouse have previously undergone a sterilization procedure. Adequate birth control measures are: intrauterine device (IUD) alone or hormone implants, hormone patches, injectable, or oral contraceptives plus a barrier method (male condom, female condom or diaphragm), abstinence or a vasectomized partner.\n12. Agreement to adhere to Lifestyle Considerations throughout study duration\n\nEXCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must not meet any of the following criteria:\n\n1. Current or prior treatment with rituximab, belimumab, or any other biologic agent in the 6 months prior to screening.\n2. Current or prior treatment with Tofacitinib for more than 6 months in the last 2 years prior to screening.\n3. Current treatment with methotrexate, azathioprine, mycophenolate mofetil, cyclosporine, tacrolimus, or other less common immunomodulatory drugs such as those falling into the class of disease-modifying antirheumatic drugs (DMARDs), not otherwise specified herein. Participants previously on methotrexate, azathioprine, mycophenolate mofetil, cyclosporine or tacrolimus, or other DMARDs should have withdrawn drug for at least 8 weeks (56 days) at the time of screening. The use of topical or ophthalmic preparations of cyclosporine, tacrolimus, or other DMARDs is permitted and does not require an 8-week withdrawal period.\n4. Treatment with cyclophosphamide, pulse methylprednisolone or IVIG within 6 months prior to screening.\n5. Current treatment with potent inhibitors of Cytochrome P450 3A4 (CYP3A4) (e.g., ketoconazole) or receiving one or more concomitant medications that result in both moderate inhibition of CYP3A4 and potent inhibition of CYP2C19 (e.g., fluconazole) that would increase serum availability of Tofacitinib. Past treatment with the agent is allowed if it was more than a week prior to the administration of the first dose of study medication.\n6. History of chronic liver disease, not including well-controlled Sjogren's-related chronic liver disease or elevated LFTs:\n\n   * ALT or AST \\>= 2x upper limit of normal at screening\n   * Serum unconjugated bilirubin \\> 2mg\u002FdL at screening\n7. Serum creatinine \\>1.5mg\u002FdL.\n8. Protein to creatinine ratio of more than 1mg\u002FdL at screening (repeated and confirmed three times or confirmed with 24 hours urine protein of more than 1000mg).\n9. Active urinary sediment (WBC, RBC or mixed cellular casts 1+ or more \u002Fhpf).\n10. Hypercholesterolemia: Values after 8-12 hour fasting blood specimen: total cholesterol \\>250 mg\u002FdL or LDL \\>180 mg\u002FdL or hypertriglyceridemia (triglyceride \\>300 mg\u002FdL) within - 45 days of screening visit.\n11. WBC \\\u003C2500\u002FmicroL or ANC \\\u003C1,000\u002FmicroL, Hgb \\\u003C9.0 g\u002FdL or platelets \\\u003C70,000\u002FmicroL or absolute lymphocyte count \\\u003C 500\u002FmicroL.\n12. Pregnant or lactating women. Women of childbearing potential are required to have a negative pregnancy test at screening.\n13. A history of drug or alcohol abuse within the 6 months prior to screening.\n14. Currently receiving hemodialysis, peritoneal dialysis, or intestinal dialysis.\n15. Active infection that requires the use of oral or intravenous antibiotics unresolved at least 14 days prior to the administration of the first dose of study medication.\n16. Active chronic infections including but not limited to HIV, Hepatitis B, Hepatitis C, and BK viremia at screening visit.\n17. Current or previous diagnosis of malignant disease, except for basal cell or squamous cell carcinoma of the skin with complete excision and clear borders or adequately treated in situ carcinoma of the cervix.\n18. Known active tuberculosis. Participants with treated latent tuberculosis (LTB) will be eligible to participate. Participants with untreated LTB will not be excluded but will be evaluated by an infectious disease (I.D.) consultant and may become eligible for trial based on infectious disease consultant recommendations.\n19. History of severe or systemic infections caused by common pathogens, or history of infection with pathogens that do not normally cause human disease.\n20. Participants with active renal or central nervous system disease or a high activity level in any organ system (except articular) in ESSDAI54.\n21. Participants with known increased risk factors for major adverse cardiac event (MACE) including a history of:\n\n    * Ischemic heart disease (e.g., history of acute myocardial infarction)\n    * Heart failure\n    * Cardiomyopathy\n    * Severe valvular heart disease\n    * Significant arrhythmias\n    * Chronic renal failure\n    * Cerebrovascular accident or transient ischemic attack\n    * Uncontrolled diabetes mellitus\n    * Uncontrolled hypertension\n    * Current smokers or former smokers with less than 3 years since complete cessation and\u002For \\>20 pack-years of smoking history.\n22. Significant impairment of major organ function (lung, heart, liver, kidney) or any condition that, in the opinion of the Investigator, would jeopardize the participant's safety following exposure to the Tofacitinib.\n23. Known history of arterial or venous thrombosis or at high risk for clotting disorder\n24. Psychiatric illness or history of medical non-compliance that the study team feels will make the patient unlikely to complete the study\n25. Uncontrolled thyroid disease as determined by PI or medically responsible investigator.\n26. Known allergic reactions to Tofacitinib or its components\n27. Treatment with another investigational drug\u002Fintervention within six months except for COVID-19 vaccines or therapies that have been granted an FDA emergency authorization.","18 Years","75 Years",{"count":127,"type":21},60,"INTERVENTIONAL",[130],"PHASE2","Background:\n\nSjogren disease is an autoimmune disease - that is, a disease that causes the body's immune system to attack its own organs and tissues. Sjogren disease can affect the kidneys, lungs, or other organs. It can also cause dry mouth and eyes, fever, joint pain, rashes, and other symptoms. Researchers want to know if a drug approved to treat rheumatoid arthritis and other autoimmune diseases can help people with Sjogren disease.\n\nObjective:\n\nTo test a drug (tofacitinib) in people with Sjogren disease.\n\nEligibility:\n\nPeople aged 18 to 75 years with Sjogren disease. They must be enrolled in protocol 15-D-0051.\n\nDesign:\n\n* Participants will be screened. They will have a physical exam with blood and urine tests. They will give samples of saliva; a small sample of tissue will be taken from a salivary gland. They will have a test of their heart function. They will have an eye exam, including a test for dry eyes.\n* Tofacitinib is a tablet taken by mouth. Participants will take the drug twice a day at home.\n* Participants will have 9 clinic visits over 28 weeks. Each visit will take up to 5 hours. In addition to repeated tests, they will have tests of the speed and pressure of blood flow through their body. They will complete health questionnaires throughout the study.\n* Participants will also have 5 phone visits during the study. They will review their health and study treatments.\n* They will have 1 final visit after they stop taking the drug.",[26],[134,30,135,136,137,138,139,140,141,142],"Salivary","Safety","Inflammation","Xerostomia","Jak","Autoimmune","Xerophthalmia","Lacrimal","Exocrine","2026-06-25",{"date":145,"type":37},"2026-06-26",{"date":147,"type":37},"2025-12-18",{"date":149,"type":21},"2030-12-15",{"name":43,"class":44},{"id":152,"slug":153,"hasResults":11,"nctId":154,"briefTitle":155,"officialTitle":155,"acronym":4,"eligibilityCriteria":156,"healthyVolunteers":11,"sex":16,"minAge":104,"maxAge":18,"enrollmentInfo":157,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":159,"conditions":160,"keywords":164,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":170,"lastUpdatePostDateStruct":171,"startDateStruct":173,"completionDateStruct":4,"leadSponsor":175,"locationsCount":45},"100059961","a-natural-history-study-of-bone-and-mineral-disorders-100059961","NCT00024804","A Natural History Study of Bone and Mineral Disorders","* INCLUSION CRITERIA:\n\nThe study population will include participants with known or suspected bone disease and\u002For with a known or suspected disorder of mineral metabolism. To be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Age 1 day of life or older\n2. Have a known or suspected bone disease, as demonstrated by any one of the following: a fracture, or abnormal bone findings on x-ray, CT scan, MRI, or bone densitometry, and\u002For a medical or family history consistent with or suggestive of a bone disease.\n3. Have a known or suspected disorder of mineral metabolism, as demonstrated by any one of the following: laboratory measurement above or below the reference values for either blood or urine calcium, phosphorus, magnesium, parathyroid hormone or vitamin D, or other measures of mineral metabolism, and\u002For a medical or family history consistent with or suggestive of a disorder of mineral metabolism.\n\nEXCLUSION CRITERIA:\n\n1\\. Participants unwilling or unable to abide by the procedures of the protocol.",{"count":158,"type":21},1000,"This study has four objectives: 1) to provide investigators the opportunity to study bone specimens from patients with various skeletal diseases; 2) to treat patients with skeletal diseases at the NIH; 3) to expose NIH trainees to certain skeletal diseases; and 4) to gain more knowledge about skeletal diseases and stimulate further study of bone biology.\n\nAnyone with a disease that affects the skeleton may be eligible for this study.\n\nAll evaluations, tests, procedures and treatments given study participants are used in the standard care of skeletal diseases. No experimental evaluations or treatments are offered. Patient evaluations include a medical history, review of medical records and routine physical examination. Based on the findings, other procedures may be recommended, including blood tests, urine tests, and imaging tests, such as X-rays, bone densitometry, bone scan, computed tomography (CT) and magnetic resonance imaging (MRI).\n\nBone specimens from participants will be collected for research use. Specimens will be obtained from bone removed during a patient s planned surgical procedure performed for medical care, or patients may be requested to have a bone biopsy removal of a small piece of bone tissue as part of the patient evaluation procedure.",[161,162,163],"Tumor Induced Osteomalcia","Osteomalacia","Familial Tumoral Calcinosis",[66,165,166,167,162,168,169],"skeletal diseases","Osteoporosis","Dysplasia","Bone Diseases","Skeletal Disease","2026-06-23",{"date":172,"type":37},"2026-06-24",{"date":174,"type":37},"2001-11-19",{"name":43,"class":44},{"id":177,"slug":178,"hasResults":11,"nctId":179,"briefTitle":180,"officialTitle":180,"acronym":4,"eligibilityCriteria":181,"healthyVolunteers":11,"sex":16,"minAge":52,"maxAge":18,"enrollmentInfo":182,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":184,"conditions":185,"keywords":188,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":191,"lastUpdatePostDateStruct":192,"startDateStruct":194,"completionDateStruct":4,"leadSponsor":196,"locationsCount":45},"100165376","the-pathogenesis-and-natural-history-of-sjogrens-disease-100165376","NCT01425892","The Pathogenesis and Natural History of Sjogren's Disease","* INCLUSION CRITERIA:\n\n  1. Ability to sign informed consent form\n  2. Fulfilling one the definitions below:\n\n     1. Sjogren s defined by European-American (EA) classification criteria for primary or secondary Sjogren s Disease (SjD group)\n     2. Excluded from the EA criteria because of a comorbid condition but otherwise fulfilling the European-American classification criteria (EA excluded SjD group)\n     3. Incomplete SjD\n\n     i. at least 2 of the EA criteria with a common manifestation of SjD not included in these criteria (e.g., fatigue, vasculitis, arthritis, etc) or\n\n     ii. 2 or more common manifestations of SjD which are not included in the EA criteria (e.g.,: fatigue, vasculitis, arthritis, autonomic dysfunction, etc ) and are not explained by other conditions\n\n     EXCLUSION CRITERIA:\n\n  \u003C!-- -->\n\n  1. Age \\\u003C16 years\n  2. inability or unwillingness to comply with follow up requirements\n  3. Any medical or psychological\u002Fpsychiatric condition or treatment that, in the opinion of the Principal Investigator, would exclude the subjects from the research studies (e.g., alternative explanation for subjects signs and symptoms)\n  4. NIH employees who report directly to the principal investigator or who are a co-worker or relative of the principal investigator.",{"count":183,"type":21},300,"Background:\n\n-Sjogren s Disease (formerly: Sjogrens Syndrome, Sj(SqrRoot)(Delta)gren s syndrome) is a disease that affects about 1-4 million Americans. It is more common in women. It mainly affects the glands that produce saliva and tears, leading to dry eyes and dry mouth. The cause of Sjogren s Disease is unknown, but inflammation plays an important role. The purpose of this study is to learn more about Sjogren s Disease.\n\nObjectives:\n\n-To better understand how Sjogren s Disease begins and how it affects patients so that we can develop better ways to treat them.\n\nEligibility:\n\n* Participants must be 16 years of age or older.\n* They must have a diagnosis of Sjogren s Disease or have at least two symptoms of Sjogren s Disease.\n\nDesign:\n\n* People taking part in the study will come to the NIH Clinical Center for at least three visits.\n* During these visits, participants will have a medical history and physical exam. They will have oral and dental assessments, and saliva collection. Lab tests (blood and urine) and dry eye exams will be done. Participants will answer questionnaires and have salivary scintigraphy (adults only unless required for diagnosis).\n* Other optional tests may also be done. Participants may have to come in for additional visits if they have these optional tests or if their disease changes.\n* The only treatment provided as part of this study is for medical emergencies or complications that occur while you are at NIH for evaluation.",[26,186,187],"Salivary Gland","Pathogenesis",[26,186,187,66,189,190],"Sj(SqrRoot)(Delta)gren s syndrome","Sjogrens Syndrome","2026-06-17",{"date":193,"type":37},"2026-06-18",{"date":195,"type":37},"2012-01-18",{"name":43,"class":44},{"id":198,"slug":199,"hasResults":11,"nctId":200,"briefTitle":201,"officialTitle":202,"acronym":4,"eligibilityCriteria":203,"healthyVolunteers":11,"sex":16,"minAge":124,"maxAge":204,"enrollmentInfo":205,"targetDuration":4,"studyType":128,"phases":207,"briefSummary":209,"conditions":210,"keywords":213,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":218,"lastUpdatePostDateStruct":219,"startDateStruct":221,"completionDateStruct":223,"leadSponsor":225,"locationsCount":45},"100118154","phase-1-resiniferatoxin-to-treat-severe-pain-associated-with-advanced-cancer-100118154","NCT00804154","Resiniferatoxin to Treat Severe Pain Associated With Advanced Cancer","A Phase I Study of the Intrathecal Administration of Resiniferatoxin for Treating Severe Refractory Pain Associated With Advanced Cancer","* INCLUSION CRITERIA:\n\nSubject inclusion criteria are based on inadequate control of pain despite best efforts, including appropriate use of analgesic medications. To be enrolled in the study, subjects must meet all of the following criteria:\n\n1. Age 18 years or older.\n2. Clinical and histological diagnosis of cancer with disease that has not adequately responded to standard therapies. A pathology report documenting malignancy is required.\n3. Subject not currently seeking or receiving potentially curative therapies for cancer (e.g., chemotherapy or immunotherapy). Curative cancer therapy may be sought after the Day 15 clinic visit, and palliative anti-tumor therapy is allowed as long as the subject was established on that therapy prior to enrollment (see exclusion criterion 6).\n4. Mean daily worst pain NRS score of greater than or equal to 6 for pain at or below the T6 dermatome (level of the chest) that is associated with a malignant disease. The mean score must be derived from recordings on at least 4 of 7 consecutive days within 3 weeks preceding treatment.\n5. Alternative methods of pain control are not sufficiently effective, not indicated, not tolerated, and\u002For refused by the subject, as determined by the Pain and Palliative Care Service (PPCS). Alternative methods of pain control include, but are not limited to, the following:\n\n   -Opioids (all routes of administration including neuraxial infusions)\n\n   -Adjuvant pain medications such as antidepressants, corticosteroids, local anesthetics, and antiseizure medications\n\n   -Procedures such as catheter or implantable pump placement for delivery of analgesic medication\n   * Prior neurolytic interventions (including intercostal, superior hypogastric, or celiac plexus blocks)\n   * Complementary medicine approaches\n   * Transcutaneous electric nerve stimulation\n   * Radiation therapy\n6. Reasonable expectation that the subject will be able to complete the study through the 30-day follow-up.\n7. Medical clearance from referring physician consisting of a statement indicating an adequate recovery period from other previous trials\u002Fmedication.\n8. Formal review of the subject s medical records and written approval for his\u002Fher inclusion in\n\nthe study by 3 separate persons:\n\n* Principal Investigator (PI) or an Associate Investigator (AI)\n* Medical oncologist or oncologic surgeon.\n* A member of the PPCS at the NIH or institution s equivalent at other sites.\n\n  10\\. International normalized ratio (INR; from prothrombin time \\[PT\\]) \\\u003C 1.5 and partial thromboplastin time (PTT) less than or equal to the upper limit of the reference range. The INR and PTT may be corrected (e.g., by administration of blood products, vitamin K, etc.), provided a repeat blood draw confirms that the values meet this inclusion criterion.\n\n  10\\. Platelet count greater than or equal to 50,000\u002Fmm\\^3. Platelets will be transfused as necessary to raise the platelet count to greater than or equal to 100,000\u002Fmm\\^3 prior to dosing.\n\n  11\\. Ability to stop any anticoagulant (e.g., Coumadin) and antiplatelet therapies (e.g., aspirin) before and during IT catheter placement according to accepted medical guidelines.1\n\n  12\\. Ability and willingness to undergo an eye examination.\n\n  13\\. Ability to read, speak, and understand English, and willingness to complete the study tools and forms.\n\n  14\\. For women of childbearing potential and men with partners of childbearing potential, the ability and willingness to use an effective method of contraception during the study. Effective methods of birth control include:\n* hormonal contraception (birth control pills, injected hormones, or vaginal ring),\n* intrauterine device,\n* barrier methods (condom or diaphragm) combined with spermicide, or\n* surgical sterilization (hysterectomy, tubal ligation, or vasectomy).\n\n  15\\. Availability of a responsible adult to assist with activities of daily living as needed for the subject through the Day 15 visit.\n\n  16\\. Ability to assign a Durable Power of Attorney (DPA) for research and medical care at NIH\n\nEXCLUSION CRITERIA:\n\nSubjects will be excluded from the study if they meet any of the following criteria:\n\n1. Primary pain source from anatomical regions at T5 dermatome or above.\n2. Pain due to causes other than cancer or its treatment that is moderate to severe in intensity.\n3. Anatomic abnormality or pathology of the spinal cord and\u002For IT space on magnetic resonance imaging (MRI) that could increase the risk of adverse effects of catheter placement or interfere with CSF flow.\n4. Evidence of advanced brain pathology or elevated intracranial pressure as determined by symptoms, history, physical examination (including neurological and eye examination), and\u002For MRI.\n5. Presence of an IT shunt device (e.g., ventriculo-peritoneal and ventriculo-atrial shunts).\n6. Anticipating initiation of palliative anti-tumor therapy or significant changes to current palliative anti-tumor therapy before completion of the Day 15 visit.\n7. Documented allergy to chili peppers or capsaicin (e.g., hives, wheal).\n8. Contraindication to MRI or MRI contrast.\n9. Female subjects who are pregnant or lactating.\n10. Clinically significant disorder or condition that might interfere with study participation or greatly increase safety risk to the subject, as judged by a study investigator.\n11. Planned use of another investigational agent, therapy, or device within 30 days after dosing.\n12. Have a history of heart failure or unexplained fainting (syncope).\n13. Have an EKG abnormality in which the baseline QTc interval exceeds 450 milliseconds.\n14. Have a known family history of long QT syndrome.\n15. Have abnormal electrolyte levels (i.e., low potassium) that cannot be corrected.\n16. Have urinary retention that does not resolve with medical or surgical treatment.\n17. Have skin ulceration that does not resolve with medical or surgical treatment.\n18. Have a history of seizure activity in the previous month.\n19. Have experienced symptoms of opioid toxicity in the past month (i.e. myoclonus, seizures, and\u002For hallucinations)","99 Years",{"count":206,"type":21},45,[208],"PHASE1","This study will examine the safety of giving the experimental drug, resiniferatoxin (RTX), to treat severe pain in patients with advanced cancer. RTX is a chemical extracted from a cactus-like plant. It is similar to capsaicin, the active ingredient in hot pepper. RTX has relieved pain and reduced the need for pain medication in several animal experiments. It works by destroying nerves that transmit pain information.\n\nPeople at least 18 years of age with severe pain from advanced cancer at or below the level of the chest that cannot be controlled with standard treatments may be eligible for this study. Participants undergo the following procedures:\n\nPretreatment Visit\n\nBefore beginning treatment with RTX, patients give a medical history and undergo a physical examination that includes:\n\n* Electrocardiogram (EKG)\n* Blood draw\n* Urinalysis\n* Neurological examinations\n* Peak expiratory flow rate (PEFR)\n* Eye examination\n* MRI\n* Urology assessment\n* Pregnancy test, when appropriate\n* Questionnaires to collect information on health, personality, mood, pain levels and symptoms.\n\n  2-Day Hospitalization\n\nPatients are hospitalized for 2 days for RTX injection and monitoring, as follows:\n\n* RTX injection: RTX is injected in the operating room under general anesthesia. It is given through a catheter placed in the patient s spine. The catheter is also used to obtain samples of cerebrospinal fluid (CSF) the clear fluid that bathes the spinal cord. The fluid is examined to assess drug effects and side effects, chemical changes in the content of the CSF associated with RTX, and how RTX is handled by the body.\n* Post-injection monitoring, including:\n* Surveys about symptoms such as pain or weakness\n* Neurological examinations\n* Blood and CSF sampling\n* EKG\n* AEs\n\nOutpatient followup\n\n* Vitals\n* Blood draw, Urinalysis, neurological and sensory testing, EKG on days 7, 14 and 30 after the injection\n* MRI scans of the head and back, Urology assessment and PEFR on day 15 after the injection\n* Eye examination\n* Follow-up phone calls monthly for 6 months",[211,212],"Intractable Pain","Palliative Care",[214,215,216,217],"Vanilloid","Capsaicin","Cancer Pain","Nerve Block","2026-06-05",{"date":220,"type":37},"2026-06-08",{"date":222,"type":37},"2009-08-14",{"date":224,"type":21},"2027-02-07",{"name":43,"class":44},{"id":227,"slug":228,"hasResults":11,"nctId":229,"briefTitle":230,"officialTitle":231,"acronym":4,"eligibilityCriteria":232,"healthyVolunteers":11,"sex":16,"minAge":233,"maxAge":18,"enrollmentInfo":234,"targetDuration":4,"studyType":128,"phases":236,"briefSummary":237,"conditions":238,"keywords":240,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":246,"lastUpdatePostDateStruct":247,"startDateStruct":249,"completionDateStruct":251,"leadSponsor":253,"locationsCount":45},"100634555","phase-1-safety-and-efficacy-of-pth-ia-100634555","NCT07541209","Safety and Efficacy of PTH-IA","A Phase 1\u002F2 Open-label First-in-Human Dose-Escalating Safety and Efficacy Study Evaluating Subcutaneous Administration of PTH-IA in Adults and Children With Jansen s Metaphyseal Chondrodysplasia (JMC)","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Willingness of participant and\u002For guardian to sign a written informed consent form, which must be obtained prior to initiation of study procedures.\n2. Period 1: Adults \\>=18 years of age\n\n   Period 2: Adults and children 3-17 years of age\n3. Minimum body weight of 35 kg for participation in Period 1 and 18 kg for participation in Period 2.\n4. Have an activating germline mutation of PTHIR (H223R, I458K, I458R, T410P, or T410R)\n5. Female participants of reproductive potential must agree to use one form of highly effective contraception. Highly effective contraception includes:\n\n   Total abstinence (when this is in line with the preferred and usual lifestyle of the participant). Periodic abstinence (e.g. calendar, ovulation, symptothermal, post- ovulation methods) and withdrawal are not acceptable methods of contraception.\n\n   Female sterilization (have had surgical bilateral oophorectomy with or without hysterectomy) or tubal ligation at least six weeks before taking study treatment.\n\n   Male sterilization (at least 6 months prior to screening). For female participants in the study, the vasectomized male partner should be the sole partner for that participant for the study duration.\n\n   Use of oral, injected, or implanted hormonal methods of contraception or other forms of hormonal contraception that have comparable efficacy (failure rate \\\u003C1%), for example hormonal vaginal ring or transdermal hormone contraception\n\n   Placement of an intrauterine device (IUD) or intrauterine system (IUS)\n\n   Barrier methods of contraception used correctly by the male partner: condom or occlusive cap (diaphragm or cervical\u002F vault caps) with spermicidal foam\u002Fgel\u002Ffilm\u002Fcream\u002Fvaginal suppository.\n6. For males of reproductive potential: use of condoms or other methods described above to ensure effective contraception with partner.\n7. Stated willingness to comply with all study procedures and availability for the duration of the study, including the ability and willingness to travel to the NIH Clinical Center.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Pregnancy or lactation\n2. 25-hydroxyvitamin D \\\u003C=20 ng\u002FmL. Patients will be eligible for rescreening after a repletion period lasting up to 6 months.\n3. Clinically significant renal disease with estimated glomerular filtration rate (eGFR) \\\u003C=45 mL\u002F min\u002F1.73 m2.\n4. Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \\>2 times the upper limit of normal. If transaminitis is present, patients will be eligible for rescreening for a period of up to 6 months.\n5. Hgb \\\u003C12 gm\u002FdL for women and girls \\>=16 years, \\\u003C=13 gm\u002FdL for men and boys \\>=16 years, and \\\u003C=11.5 gm\u002FdL in children \\\u003C=15 years. If reduced hemoglobin levels are related to iron, B12, or folate deficiency, patients will be eligible for rescreening after a repletion period lasting up to 6 months.\n6. Hypersensitivity or intolerance to any active substance or excipient of PTH-IA\n7. History of surgical removal of all parathyroid glands.\n8. Treatment with bisphosphonate use within 6 months of screening\n9. Treatment with denosumab within 3 months of screening\n10. Treatment with thiazides within 4 weeks of screening\n11. Any other significant medical conditions that, in the opinion of the study team, may present a concern for participant safety or difficulty with data interpretation.","3 Years",{"count":235,"type":21},12,[208,130],"Jansen s Metaphyseal Chondrodysplasia (JMC) is a very rare disorder with only approximately 30 people known to have the disease worldwide. It is caused by parathyroid hormone 1 receptor (PTH1R) variants leading to constitutive activation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP). PTH1R is predominantly expressed in the kidneys and bone and growth-plate chondrocytes. Individuals with JMC develop severe growth impairment resulting in significant short stature, scoliosis, frequent fractures, bone pain, mineral-ion abnormalities (typically hypercalcemia and hypercalciuria), hypertension, and chronic kidney disease due to nephrocalcinosis and nephrolithiasis. Children often undergo multiple surgeries for skeletal fractures and deformities; mobility is commonly impaired, usually requiring assistive devices for ambulation. Other complications may include premature closure of cranial sutures and cranial nerve compressions with the potential for vision and\u002For hearing loss \\[1-3\\]. Physical function impairment and the need for complication-related operations have profound deleterious effects on quality of life in individuals with JMC. There are currently no approved therapies for JMC, and novel therapies are critically needed to prevent irreversible disease complications and improve patient quality of life.\n\nThe inventors of the drug, parathyroid hormone inverse agonist (PTH-IA), have considerable expertise in both the basic and clinical aspects of PTH\u002FPTHrP receptor molecular biology and pharmacology. They reported the first PTH1R JMC mutations (including the H223R mutation) over 20 years ago and identified certain PTH antagonist ligands that function as inverse agonists on the PTH1R JMC mutant receptors \\[2, 4\\]. These ligands suppress the mutant receptor s elevated basal rates of cAMP signalling, as assessed in cultured cells and animal models. In vivo studies confirm that inverse agonist ligands may be effective in treating JMC. This study involves the use of PTH-IA, a 30-amino acid PTH inverse agonist ligand with the amino acid sequence \\[Leu11,dTrp12,Trp23,Tyr36\\]-PTHrP(7-36)NH2. We hypothesize that PTH-IA will be a safe and effective treatment for individuals with JMC.",[239],"Jansen's Metaphyseal Chondrodysplasia",[241,242,243,244,245],"Jansen Type Metaphyseal Chondrodysplasia","Parathyroid Hormone 1 Receptor (PTH1R)","PTH1R Mutations","Parathyroid Hormone-Related Peptide (PTHrP)","Parathyroid Hormone Inverse Agonist (PTH-IA)","2026-05-29",{"date":248,"type":37},"2026-06-01",{"date":250,"type":37},"2026-05-27",{"date":252,"type":21},"2029-06-01",{"name":43,"class":44},{"id":255,"slug":256,"hasResults":11,"nctId":257,"briefTitle":258,"officialTitle":258,"acronym":4,"eligibilityCriteria":259,"healthyVolunteers":15,"sex":16,"minAge":260,"maxAge":18,"enrollmentInfo":261,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":263,"conditions":264,"keywords":268,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":274,"lastUpdatePostDateStruct":275,"startDateStruct":277,"completionDateStruct":279,"leadSponsor":281,"locationsCount":45},"100258133","natural-history-of-craniofacial-anomalies-and-developmental-growth-variants-100258133","NCT02639312","Natural History of Craniofacial Anomalies and Developmental Growth Variants","* INCLUSION CRITERIA:\n\nFor Subjects:\n\n* Age \\> 2 to \\\u003C 100 with craniofacial anomalies\u002Fabnormalities. Affected family member (defined as an individual with a demonstrable relationship, any family relationship no matter how distant, with the above subject in the pedigree) who expresses craniofacial anomalies will be classified as a subject.\n* Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent.\n\nFor Unaffected Family Members:\n\n* These family members are defined as individuals with a demonstrable relationship (any family relationship, no matter how distant) with a proband subject by pedigree who do not express craniofacial anomalies.\n* \\>= 2 years old to \\\u003C= 100 years old.\n* Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent.\n\nFor Healthy Volunteers:\n\n* In good general health.\n\n  -\\>= 6 years old to \\\u003C 100 years old.\n* Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent.\n* Absence of a craniofacial congenital anomaly or malocclusion.\n* No family history of a craniofacial syndrome.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\nFor All Participants:\n\n* A history of facial trauma requiring surgical treatment and facial reconstruction.\n* Refusal for both genetic testing and CBCT imaging. Participants must agree to at least one of the two (one or the other is required to participate).\n\nFor Healthy Volunteers:\n\n-Female volunteers who are pregnant or nursing.","2 Years",{"count":262,"type":21},2400,"Background:\n\nSome head and facial abnormalities are rare and present at birth. Others are more common, and may not show up until puberty. These conditions have different causes and characteristics. Researchers want to learn more about these conditions by comparing people with face, head, and neck abnormalities to family members and to healthy volunteers without such conditions.\n\nObjectives:\n\nTo learn more about abnormal development of the face, head, and neck. To determine their genetic variants.\n\nEligibility:\n\nPeople who have not had surgery for facial trauma:\n\nPeople ages 2 and older with craniofacial abnormalities (may participate offsite)\n\nUnaffected relatives ages 2 and older\n\nHealthy volunteers ages 6 and older\n\nDesign:\n\nParticipants will be screened with medical history and physical exam focusing on head, face, and neck\n\nParticipants may be followed for several years. Visits may require staying near the clinic for a few days.\n\nA visit is required for the following developmental stages, along with follow-up visits:\n\nAge 2-6\n\nAge 6-10\n\nAge 11-17\n\nAge 18 and older\n\nVisits may include:\n\nMedical history\n\nPhysical exam\n\nQuestionnaires\n\nOral exam\n\nBlood and urine tests\n\nCheek swab: a cotton swab will be wiped across the inside of the cheek several times.\n\nCone beam CT scan (CBCT): x-rays create an image of the head, face, teeth, and neck. Participants will\n\nstand still or sit on a chair for about 20 minutes while the scanner rotates around the head.\n\nPhotos of the head and face\n\nOffsite participants will provide:\n\nCopies of medical and dental records\n\nLeftover tissue samples from previous surgery\n\nBlood sample or cheek swab",[265,266,267],"Prognathism","Retrognathism","Dentofacial Deformities",[269,270,271,272,273,66],"Craniofacial","Microsomia","Mandibular","Facial Defects","Hasburg Jaw","2026-03-14",{"date":276,"type":37},"2026-03-17",{"date":278,"type":37},"2016-04-18",{"date":280,"type":21},"2046-12-31",{"name":43,"class":44},""]