A Natural History Study of Bone and Mineral Disorders

Study Description:

To evaluate participants with bone and mineral disorders at the NIH Clinical Center and obtain tissue and clinical specimens from outside institutions

Objectives:

Primary Objective:

Provide a protocol within which participants with common and rare disorders of bone and mineral metabolism can be studied, evaluated and treated at NIH.

Secondary Objectives:

To obtain tissue and clinical specimens (including but not limited to blood, urine, nucleic acids, skin and bone) and data collected at outside institutions and the NIH Clinical Center from participants with various bone and mineral disorders.

Tertiary/Exploratory Objective:

Generate a pool of participants with bone and mineral disorders, from which research questions could arise and future clinical research studies may be generated.

Endpoints:

Primary Endpoint:

Medical evaluation with clinical assessments performed at time points specific to each participant s diagnosis. Analysis of research and participant outcome data will be performed.

Secondary Endpoint:

Genetic and/or biochemical assessments of surgical waste material from the NIH Clinical Center or other medical facilities.

Tertiary/Exploratory Endpoint:

Development of a database containing information from enrolled participants with bone and mineral disorders and annotated specimens and data.

• INCLUSION CRITERIA:

The study population will include participants with known or suspected bone disease and/or with a known or suspected disorder of mineral metabolism. To be eligible to participate in this study, an individual must meet all of the following criteria:

• Age 1 day of life or older
• Have a known or suspected bone disease, as demonstrated by any one of the following: a fracture, or abnormal bone findings on x-ray, CT scan, MRI, or bone densitometry, and/or a medical or family history consistent with or suggestive of a bone disease.
• Have a known or suspected disorder of mineral metabolism, as demonstrated by any one of the following: laboratory measurement above or below the reference values for either blood or urine calcium, phosphorus, magnesium, parathyroid hormone or vitamin D, or other measures of mineral metabolism, and/or a medical or family history consistent with or suggestive of a disorder of mineral metabolism.

Exclusion criteria

• Participants unwilling or unable to abide by the procedures of the protocol.