Recruiting

NCT Number: NCT04969926

Natural History Study of Parathyroid Disorders

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.

Recruiting

Interested in participating?

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Key information

Conditions

Parathyroid Cancer Bone Diseases Bone Diseases, Metabolic Calcium Metabolism Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Endocrine Gland Neoplasms Endocrine System Diseases Genetic Diseases, Inborn Head and Neck Neoplasms Hyperparathyroidism Hyperparathyroidism, Primary Inheritable Bone Diseases Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia, Type 1 Musculoskeletal Diseases Neoplasms Neoplasms by Site Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Nutritional and Metabolic Diseases Parathyroid Diseases Parathyroid Neoplasms Primary Hyperparathyroidism Pseudohypoparathyroidism

Age range

6 month–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location status: Recruiting

Location contact

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

CONTACT

[email protected]

800-411-1222 ext. TTY dial 711

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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.
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.

Study contacts

Contact information is provided by the study sponsor or research team.

Craig S Cochran, R.N.

CONTACT

[email protected]

(301) 402-1880

Smita Jha, M.D.

CONTACT

[email protected]

(301) 827-1930

Sponsors and collaborators

Lead sponsor

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

Nih

Registry information

Important dates

Study start: 2021
Primary completion: 2031
Study completion: 2031
First posted: Jul 21, 2021
Registry last updated: Jun 23, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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