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Protocol Details

Disorders of Bone and Mineral Metabolism

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

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: 0
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Hyperparathyroidism;
calcium disorders;
Parathyroid Cancer;
Inheritable;
PSEUDOHYPOPARATHYROIDISM

Recruitment Keyword(s)

None

Condition(s)

Parathyroid cancer;
Primary hyperparathyroidism;
Pseudohypoparathyroidism;
inheritable bone diseases;
Multiple endocrine Neoplasia, type 1

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Diabetes and Digestive and Kidney Diseases

Background:

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.

Objective:

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.

Eligibility:

People ages 6 months or older who have or are at risk of having a bone and mineral metabolism 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 remain in the study indefinitely and may be followed longitudinally on a as needed basis.

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Eligibility

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:

- Incarceration

- 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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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Smita Jha, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)



Craig S. Cochran, R.N.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Building 5
Room 1604
5 Center Drive
Bethesda, Maryland 20892
(301) 402-1880
BoneMineralclinic@niddk.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT04969926

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