Natural History Study of Parathyroid Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 3,000
- 试验地点
- 1
- 主要终点
- To identify biomarkers of the disease and associated manifestations by performing molecular profiling of available biospecimens
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Months 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
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
结局指标
主要结局
To identify biomarkers of the disease and associated manifestations by performing molecular profiling of available biospecimens
时间窗: 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)
时间窗: 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.
次要结局
未报告次要终点