Natural History Study of Parathyroid Disorders

May 9, 2026 updated by: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

3000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institutes of Health Clinical Center
        • Contact:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Phone Number: TTY dial 711 800-411-1222
          • Email: ccopr@nih.gov

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 months and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To identify biomarkers of the disease and associated manifestations by performing molecular profiling of available biospecimens
Time Frame: 5 years
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)
Time Frame: 5 years
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Investigators

  • Principal Investigator: Smita Jha, M.D., National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 30, 2021

Primary Completion (Estimated)

January 22, 2031

Study Completion (Estimated)

January 22, 2031

Study Registration Dates

First Submitted

July 20, 2021

First Submitted That Met QC Criteria

July 20, 2021

First Posted (Actual)

July 21, 2021

Study Record Updates

Last Update Posted (Actual)

May 12, 2026

Last Update Submitted That Met QC Criteria

May 9, 2026

Last Verified

May 8, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 10000344
  • 000344-DK

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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