Natural History Study of Parathyroid Disorders

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Study ID
NCT04969926
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
6 Months - 100 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Nov 30, 2021
Status verified
May 2026
Primary completion
Jan 22, 2031
Completion
Jan 22, 2031

Study Design

Enrollment
3,000 participants (estimated)

Arms

  • Arm: 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

Primary Outcome Measure

To identify biomarkers of the disease and associated manifestations by performing molecular profiling of available biospecimens [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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