Clinical trial · Observational
Natural History Study of Parathyroid Disorders
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 18, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260918-000001
Summary
Brief summary (as posted)
Background: Parathyroid 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. Objective: i) To investigate the cause of parathyroid disorders ii) 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 Eligibility: People ages 6 months older who have, are at risk of having, or are related to a person with a parathyroid or related disorder. Design: Participants will be screened with a review of their medical records. Participants will be seen, tested, and treated by doctors based on their condition. Their visits may be in person or via telehealth. Participants will complete questionnaires. They will answer questions about their physical, mental, and social health. Participants may give samples such as saliva, blood, urine, or stool. Participants may give cheek cell samples. They will do this using a cheek swab or by spitting into a cup. Adult participants may give a skin biopsy. For this, a small bit of skin is removed with a punch tool. Participants may have medical photos taken. If participants have surgery during the course of their regular care either at the NIH or at a different hospital or doctor s office, researchers will ask for some of the leftover tissue. Participants will be in the study as long as they are being seen by their doctor.
Conditions
Conditions (5)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Inheritable Bone Diseases | — | UNRESOLVED | — |
| Multiple Endocrine Neoplasia, Type 1 | Multiple Endocrine Neoplasia Type 1 | ONTOLOGY_EXACT | 0.98 |
| Parathyroid Cancer | Parathyroid Cancer | ONTOLOGY_EXACT | 0.90 |
| Primary Hyperparathyroidism | — | UNRESOLVED | — |
| Pseudohypoparathyroidism | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (1)
- label
- Patients with confirmed, suspected or at risk of developing parathyroid disorder
- description
- Parathyroid (and related disorders) will be evaluated and their biospecimens collected to define the molecular signature and clinical spectrum of their disorder
Primary outcomes (2)
- measure
- To identify biomarkers of the disease and associated manifestations by performing molecular profiling of available biospecimens
- timeFrame
- 5 years
- description
- 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.
- measure
- To investigate the cause and molecular mechanism of the disease, possibly genetic in participants with unknown cause of parathyroid and related disorder(s)
- timeFrame
- 5 years
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 6 Months
- Maximum age
- 100 Years
Show eligibility criteria text
* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: * Subjects known to have, suspected of having, or at risk of developing a parathyroid or related disorder. * Age \>= 6 months. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: * Children \<= 6 months * Patients with conditions that in the opinion of the investigators can interfere with the study objectives.
References
Publications (7)
- DERIVEDTepede 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/CT for neuroendocrine tumors in multiple endocrine neoplasia type 1. Front Endocrinol (Lausanne). 2026 Aug 5;17:1849746. doi: 10.3389/fendo.2026.1849746. eCollection 2026. PMID 42620272
- DERIVEDAlkaissi 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/s12022-026-09928-w. PMID 42484783
- DERIVEDWorthy 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/jci.insight.176993. PMID 39946193
- DERIVEDGraf 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/jendso/bvad158. eCollection 2023 Dec 1. PMID 38174154
- DERIVEDTora 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/clinem/dgad368. PMID 37339334
- DERIVEDZenno 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/fendo.2023.1171052. eCollection 2023. PMID 37288292