Natural History Study of Parathyroid Disorders

Study Overview
=================
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.

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.

Official Title
-----------------
Natural History Study of Parathyroid Disorders

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

Participation Criteria
=================
Eligibility Criteria
-----------------
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.

Ages Eligible for Study
-----------------
Minimum Age: 6 Months

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with confirmed, suspected or at risk of developing parathyroid disorder<br>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 | 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 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Parathyroid Cancer, Inheritable, Hyperparathyroidism, calcium disorders, PSEUDOHYPOPARATHYROIDISM, Natural History