Natural History Study of Parathyroid Disorders

NCT04969926 | Recruiting

• 2 other identifiers: 10000344000344-DK
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 1

Brief Summary

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

Parathyroid Cancer; Primary Hyperparathyroidism; Pseudohypoparathyroidism; Inheritable Bone Diseases; Multiple Endocrine Neoplasia, Type 1

Keywords

Hyperparathyroidism; calcium disorders; Parathyroid Cancer; Inheritable; PSEUDOHYPOPARATHYROIDISM; Natural History

Outcome Measures

Primary Outcomes (2)

• 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

• To investigate the cause and molecular mechanism of the disease, possibly genetic in participants with unknown cause of parathyroid and related disorder(s)

  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

Study Arms (1)

Patients with confirmed, suspected or at risk of developing parathyroid disorder

Parathyroid (and related disorders) will be evaluated and their biospecimens collected to define the molecular signature and clinical spectrum of their disorder

Eligibility Criteria

• Age: 6 Months - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with confirmed, suspected or at risk of developing parathyroid and related disorders.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (5)

• 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 DERIVED

• 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 DERIVED

• 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 DERIVED

• 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 DERIVED

• 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 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Parathyroid Neoplasms; Hyperparathyroidism, Primary; Pseudohypoparathyroidism; Multiple Endocrine Neoplasia Type 1; Hyperparathyroidism

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Head and Neck Neoplasms; Endocrine System Diseases; Parathyroid Diseases; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Calcium Metabolism Disorders; Multiple Endocrine Neoplasia; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary

Study Officials

• Smita Jha, M.D.

  National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Craig S Cochran, R.N.

CONTACT

(301) 402-1880; craigc@bdg10.niddk.nih.gov

Smita Jha, M.D.

CONTACT

(301) 827-1930; smita.jha@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 20, 2021
• First Posted: July 21, 2021
• Study Start: November 30, 2021
• Primary Completion (Estimated): January 22, 2031
• Study Completion (Estimated): January 22, 2031
• Last Updated: April 9, 2026

Record last verified: 2026-04-02

Locations

US (1)