This study is currently recruiting participants.
Number
000344-DK
Sponsoring Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 6 mo Max Age: 100 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Hyperparathyroidism; calcium disorders; Parathyroid Cancer; Inheritable; PSEUDOHYPOPARATHYROIDISM; Natural History
Recruitment Keyword(s)
Condition(s)
Parathyroid cancer; Primary hyperparathyroidism; Pseudohypoparathyroidism; inheritable bone diseases; Multiple endocrine Neoplasia, type 1
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Diabetes and Digestive and Kidney Diseases
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.
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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.
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.
Principal Investigator
Referral Contact
For more information: