Natural History Study of Parathyroid Disorders

Обзор

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.

Подробное описание

Study Description:

Patients 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.

Objectives:

* To investigate the cause of the disease and its associated manifestations, possibly genetic in participants with parathyroid and related disorder(s) * To identify biomarkers of the various parathyroid disorder(s) and associated manifestations by performing molecular profiling of available biospecimens * 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. * To investigate the natural history of parathyroid disorders and associated manifestations during pregnancy * To characterize the morbidity and mortality in participants with parathyroid and related disorders and investigate its association with extra-parathyroidal manifestations. * To investigate long-term risks and benefits with standard of care testing and therapy for parathyroid and associated extra-parathyroidal manifestations.

Первичные конечные точки

• To identify biomarkers of the disease and associated manifestations by performing molecular profiling of available biospecimens [Срок оценки: 5 years]
• To investigate the cause and molecular mechanism of the disease, possibly genetic in participants with unknown cause of parathyroid and related disorder(s) [Срок оценки: 5 years]

Критерии участия

• 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.

Критерии исключения

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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

США · 1 центр

• National Institutes of Health Clinical Center — Bethesda

Публикации

• 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/s12022-026-09928-w. PMID 42484783
• 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/jci.insight.176993. PMID 39946193
• 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/jendso/bvad158. eCollection 2023 Dec 1. PMID 38174154
• 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/clinem/dgad368. PMID 37339334
• 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/fendo.2023.1171052. eCollection 2023. PMID 37288292
• 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/jendso/bvad055. eCollection 2023 Mar 6. PMID 37284613

Идентификаторы

NCT: NCT04969926 · 10000344 · 000344-DK

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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