Natural History Study of Parathyroid Disorders

What this Trial Is About

Parathyroid disorders, which affect calcium-phosphate balance in the body, are common and include conditions of excess, deficiency, or signaling defects involving parathyroid hormone PTH. This research aims to investigate the causes of these disorders, including genetic factors, and to understand their natural history and progression, especially in syndromic cases like multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndrome. Participants who have, are suspected of having, or are at risk for parathyroid or related disorders will receive standard care testing and treatment as needed. The study collects data including biospecimens such as saliva, blood, urine, stool, cheek cell samples, and for adults, possibly skin biopsies. Medical photos and leftover tissue from surgeries may also be collected. Visits can be in person or via telehealth and continue as long as participants receive care. During the study, participants will complete questionnaires about their physical, mental, and social health. Researchers will review medical records, perform clinical testing, and analyze collected samples to identify biomarkers and investigate disease mechanisms. The main outcomes include molecular profiling of biospecimens and exploring causes of parathyroid disorders over five years. Participants remain in the study while under medical care, with ongoing monitoring of their health and disease status.

Natural History Study of Parathyroid Disorders