Disorders of Bone and Mineral Metabolism

  • End date
    Jan 22, 2031
  • participants needed
  • sponsor
    National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Updated on 24 October 2021
vitamin d
serum calcium
parathyroid hormones



Disorders of bone and mineral metabolism particularly parathyroid disorders like multiple endocrine neoplasia type 1, jaw tumor syndrome, familial hypocalciuric hypercalcemia, parathyroid cancer, osteoporosis, and Paget s disease. Advances have been made in the past few decades. But, there remains a significant gap in the knowledge about these disorders. Researchers want to collect information from people with these disorders to learn more.


To create a collection of data and samples that researchers can use for studies of bone and mineral metabolism or other related diseases or conditions.


People ages 6 months or older who have or are at risk of having a bone and mineral metabolism disorder.


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


Participants will remain in the study indefinitely and may be followed longitudinally on a as needed basis.


Metabolic bone disorders are very common in the general population and include parathyroid disorders like multiple endocrine neoplasia type 1, jaw tumor syndrome, familial hypocalciuric hypercalcemia, parathyroid cancer, osteoporosis and Paget s disease. Although significant advances have been made in the last few decades, these advances have not translated as successfully to advances in patient care. Additionally, developments in rare bone disorders and evidence to guide optimal provision of care to patients affected with them are fundamental gaps in our knowledge. Few leading academic institutions have a comprehensive center for diagnosis, treatment and investigation of bone and mineral disorders. The Metabolic Diseases Branch of the NIDDK has been studying patients with metabolic bone disorders for several decades and has developed an extensive cohort of patients who have contributed to research protocols for many years. Thus, the Metabolic Diseases Branch of the NIDDK is uniquely situated to collect a wealth of samples and data on patients with these diseases.

The objective of this protocol is to create a repository of samples and data obtained during standard clinical care that can be used for future research. These samples and data will be stored indefinitely and will be used for future research in metabolic bone disorders and related diseases.

Condition Osteopenia, Hyperparathyroidism, Parathyroid Adenoma, Primary hyperparathyroidism, PARATHYROID DISORDER, Wermer Syndrome, Pseudohypoparathyroidism, head and neck cancer, men1, multiple endocrine neoplasia type 1, parathyroid carcinoma, parathyroid carcinomas, Inheritable Bone Diseases, Inheritable Bone Diseases
Clinical Study IdentifierNCT04969926
SponsorNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Last Modified on24 October 2021


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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 disorder of bone and mineral metabolism
Age >= 6 months

Exclusion Criteria

An individual who meets any of the following criteria will be excluded from
participation in this study
Patients with drug-related disturbances of mineral metabolism
Patients with post-surgical hypoparathyroidism or vitamin D - deficiency associated hypocalcemia
Patients with conditions that in the opinion of the investigators can interfere with the study objectives
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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