[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT04969926":3,"trial-entities:NCT04969926":115,"trial-summary:NCT04969926":121},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":23,"study_type":29,"primary_purpose":14,"phases":30,"enrollment_info":31,"interventions":34,"primary_outcomes":35,"secondary_outcomes":42,"sex":43,"minimum_age":44,"maximum_age":45,"healthy_volunteers":46,"eligibility_criteria":47,"std_ages":55,"locations":59,"central_contacts":76,"overall_officials":85,"references":88,"see_also_links":111},"NCT04969926","10000344","Natural History Study of Parathyroid Disorders","RECRUITING","2031-01-22","2026-08-20","2026-08-24","2021-11-30","National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)","NIH",null,"Background:\n\nParathyroid disorders are very common in the general population and include disorders of parathyroid excess, deficiency, or defects in parathyroid hormone (PTH) signaling. PTH, the main secretory product of parathyroid glands is responsible for regulation of calcium-phosphate homeostasis.\n\nObjective:\n\ni) To investigate the cause of parathyroid disorders\n\nii) To describe evolution, natural history, and longitudinal trends of parathyroid and related disorders seen in syndromic presentations like multiple endocrine neoplasia, hyperparathyroidism-jaw tumor syndrome\n\nEligibility:\n\nPeople ages 6 months older who have, are at risk of having, or are related to a person with a parathyroid or related disorder.\n\nDesign:\n\nParticipants will be screened with a review of their medical records.\n\nParticipants will be seen, tested, and treated by doctors based on their condition. Their visits may be in person or via telehealth.\n\nParticipants will complete questionnaires. They will answer questions about their physical, mental, and social health.\n\nParticipants may give samples such as saliva, blood, urine, or stool.\n\nParticipants may give cheek cell samples. They will do this using a cheek swab or by spitting into a cup.\n\nAdult participants may give a skin biopsy. For this, a small bit of skin is removed with a punch tool.\n\nParticipants may have medical photos taken.\n\nIf participants have surgery during the course of their regular care either at the NIH\n\nor at a different hospital or doctor s office, researchers will ask for some of the leftover\n\ntissue.\n\nParticipants will be in the study as long as they are being seen by their doctor.","Study Description:\n\nPatients with confirmed, suspected or at risk of developing parathyroid disorders will be provided standard of care testing for their condition. Data obtained during the testing will be used for research. Additionally, samples may be collected for research.\n\nObjectives:\n\n* To investigate the cause of the disease and its associated manifestations, possibly genetic in participants with parathyroid and related disorder(s)\n* To identify biomarkers of the various parathyroid disorder(s) and associated manifestations by performing molecular profiling of available biospecimens\n* To describe evolution, natural history and longitudinal trends of parathyroid and related disorders including the associated extra- parathyroid manifestations seen in these disorders, for example, Zollinger-Ellison syndrome, gastro-entero-pancreatic neuroendocrine tumors, kidney, jaw, pituitary and uterine tumors.\n* To investigate the natural history of parathyroid disorders and associated manifestations during pregnancy\n* To characterize the morbidity and mortality in participants with parathyroid and related disorders and investigate its association with extra-parathyroidal manifestations.\n* To investigate long-term risks and benefits with standard of care testing and therapy for parathyroid and associated extra-parathyroidal manifestations.",[18,19,20,21,22],"Parathyroid Cancer","Primary Hyperparathyroidism","Pseudohypoparathyroidism","Inheritable Bone Diseases","Multiple Endocrine Neoplasia, Type 1",[24,25,18,26,27,28],"Hyperparathyroidism","calcium disorders","Inheritable","PSEUDOHYPOPARATHYROIDISM","Natural History","OBSERVATIONAL",[],{"count":32,"type":33},3000,"ESTIMATED",[],[36,40],{"measure":37,"description":38,"timeFrame":39},"To identify biomarkers of the disease and associated manifestations by performing molecular profiling of available biospecimens","Participants will undergo standard clinical evaluations for their condition. Data obtained during these evaluations will be retained for purposes of the primary objective, for analysis of secondary objectives, and for future research. There are no mandatory study procedures for this protocol.","5 years",{"measure":41,"description":38,"timeFrame":39},"To investigate the cause and molecular mechanism of the disease, possibly genetic in participants with unknown cause of parathyroid and related disorder(s)",[],"ALL","6 Months","100 Years",false,{"inclusion":48,"exclusion":51,"raw_text":54},[49,50],"Subjects known to have, suspected of having, or at risk of developing a parathyroid or related disorder.","Age \\>= 6 months.",[52,53],"Children \\\u003C= 6 months","Patients with conditions that in the opinion of the investigators can interfere with the study objectives.","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Subjects known to have, suspected of having, or at risk of developing a parathyroid or related disorder.\n* Age \\>= 6 months.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Children \\\u003C= 6 months\n* Patients with conditions that in the opinion of the investigators can interfere with the study objectives.",[56,57,58],"CHILD","ADULT","OLDER_ADULT",[60],{"facility":61,"status":7,"city":62,"state":63,"zip":64,"country":65,"contacts":66,"geoPoint":73},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[67],{"name":68,"role":69,"phone":70,"phoneExt":71,"email":72},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY dial 711","ccopr@nih.gov",{"lat":74,"lon":75},38.98067,-77.10026,[77,81],{"name":78,"role":69,"phone":79,"email":80},"Lynn M Bliss","(301) 435-7921","bonemineralclinic@niddk.nih.gov",{"name":82,"role":69,"phone":83,"email":84},"Smita Jha, M.D.","(301) 827-1930","smita.jha@nih.gov",[86],{"name":82,"affiliation":12,"role":87},"PRINCIPAL_INVESTIGATOR",[89,93,96,99,102,105,108],{"pmid":90,"type":91,"citation":92},"42620272","DERIVED","Tepede AA, Lee M, Welch J, Mandl A, Cochran C, Hamimi A, Weinstein LS, Simonds WF, Gharib AM, Millo C, Sadowski SM, Blau JE, Jha S. 18F-FDOPA PET\u002FCT for neuroendocrine tumors in multiple endocrine neoplasia type 1. Front Endocrinol (Lausanne). 2026 Aug 5;17:1849746. doi: 10.3389\u002Ffendo.2026.1849746. eCollection 2026.",{"pmid":94,"type":91,"citation":95},"42484783","Alkaissi H, Chuki E, Liu Y, Welch J, Bliss L, Shah N, Agarwal SK, Simonds WF, Quezado M, Sakiani S, Andresson T, Pacak K, Nilubol N, Weinstein LS, Febres-Aldana CA, Jha S. Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas. Endocr Pathol. 2026 Jul 22;37(1):32. doi: 10.1007\u002Fs12022-026-09928-w.",{"pmid":97,"type":91,"citation":98},"39946193","Worthy CC, Tora R, Uttarkar CN, Welch JM, Bliss L, Cochran C, Ninan A, Kumar S, Wank S, Auh S, Weinstein LS, Simonds WF, Agarwal SK, Blau JE, Jha S. Genotype-phenotype correlation in multiple endocrine neoplasia type 1. JCI Insight. 2025 Feb 13;10(6):e176993. doi: 10.1172\u002Fjci.insight.176993.",{"pmid":100,"type":91,"citation":101},"38174154","Graf A, Cochran C, Sadowski S, Nilubol N, Simonds WF, Weinstein LS, Chang R, Jha S. Invasive Testing for Preoperative Localization of Parathyroid Tumors. J Endocr Soc. 2024 Jan 2;8(1):bvad158. doi: 10.1210\u002Fjendso\u002Fbvad158. eCollection 2023 Dec 1.",{"pmid":103,"type":91,"citation":104},"37339334","Tora R, Welch J, Sun J, Agarwal SK, Bell DA, Merino M, Weinstein LS, Simonds WF, Jha S. Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome. J Clin Endocrinol Metab. 2023 Nov 17;108(12):3165-3177. doi: 10.1210\u002Fclinem\u002Fdgad368.",{"pmid":106,"type":91,"citation":107},"37288292","Zenno A, Ramamoorthy B, Hammoud DA, Quezado M, Zeiger MA, Jha S. Case Report: Nine-year-old with parathyroid adenoma within the piriform sinus. Front Endocrinol (Lausanne). 2023 May 23;14:1171052. doi: 10.3389\u002Ffendo.2023.1171052. eCollection 2023.",{"pmid":109,"type":91,"citation":110},"37284613","Chuki E, Graf A, Ninan A, Tora R, Abijo T, Bliss L, Nilubol N, Weinstein LS, Agarwal SK, Simonds WF, Jha S. Long-Term Outcomes of Parathyroid Autografts in Primary Hyperparathyroidism. J Endocr Soc. 2023 Apr 22;7(5):bvad055. doi: 10.1210\u002Fjendso\u002Fbvad055. eCollection 2023 Mar 6.",[112],{"label":113,"url":114},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_000344-DK.html",{"nct_id":4,"conditions":116,"biomarkers":120},[117,21,118,119,19,20],"Calcium Disorders","Multiple Endocrine Neoplasia Type 1","Parathyroid Gland Carcinoma",[],{"nct_id":4,"found":122,"summary":123,"prompt_version":132},true,{"design":124,"status":125,"heading":6,"summary":126,"follow_up":127,"word_count":128,"commitments":129,"compensation":130,"drugs_mentioned":131},"This is an observational study that plans to include 3000 participants. It is not testing a specific drug or intervention.","completed","This study is looking to understand more about parathyroid disorders, which affect how your body controls calcium. Researchers want to find out what causes these conditions, how they develop over time, and if there are specific markers (biomarkers) in your body that can help identify them. They will do this by studying information and samples from people with conditions like parathyroid cancer, primary hyperparathyroidism, and other related bone or endocrine (hormone) disorders. The goal is to learn more about these conditions to improve care in the future. This is an observational study, meaning you would receive standard medical care for your condition, and researchers would collect data from that care. The study aims to enroll 3000 participants.","The study aims to identify biomarkers and investigate causes and mechanisms over a 5-year period.",117,"Participants will receive standard medical care for their condition. Data obtained during this testing will be used for research, and samples may also be collected.","Not stated in the trial record.",[],"v2"]