Evaluation and Treatment of Skeletal Diseases

• To successfully enroll, evaluate, and manage subjects with common and rare bone and mineral metabolism disorders [ Time Frame: Ongoing ]
  
• To collect or receive research and clinical specimens of common and rare bone and mineral metabolism disorders [ Time Frame: Ongoing ]
  
• To generate future research studies related to bone disorders [ Time Frame: Ongoing ]
  

Human diseases are commonly manifested in the skeletal system. The skeleton may be the primary or secondary target of the disease and the disease may be congenital or acquired. While understanding of the molecular and cellular biology of bone and mineral disorders has increased in the last several years, much remains to be understood about the underlying biology of the skeleton. The gaps in the understanding of skeletal biology are evident in the paucity of tissue-specific therapies for skeletal diseases.

Within this study, we plan to obtain tissue and clinical specimens from outside institutions as well as to evaluate subjects with bone and mineral disorders at the NIH Clinical Center. Subjects will undergo clinically indicated testing and possibly receive treatment, which will be limited to therapies based on the best professional judgment of the investigators and treatment with medications commercially available under FDA law.

Objectives:

The objectives of this protocol are to:

1. allow for the receipt of tissues and clinical specimens from investigators outside and inside the NIH
2. provide a protocol within which subjects with common and rare disorders of bone and mineral metabolism can be studied, evaluated and treated at NIH
3. provide a protocol under which trainees can evaluate subjects with bone and mineral disorders
4. provide a pool of subjects with bone and mineral disorders, from which research questions will arise and from which future research studies will be generated.

Study Population:

The study population will include subjects:

• with a known or suspected bone disease and/or with a known or suspected disorder of mineral metabolism
• Subjects who meet eligibility criteria will be accepted regardless of gender, race, or ethnicity.

Design:

This protocol is a training, evaluation and treatment protocol.

Outcome measures:

1. To successfully enroll, evaluate, and manage subjects with common and rare bone and mineral metabolism disorders. The purposes for doing this are: a) educating trainees and investigators and b) providing a mechanism by which subjects with diseases of uncertain or unknown diagnoses can be evaluated.
2. To collect or receive research and clinical specimens of common and rare bone and mineral metabolism disorders from subjects seen at outside medical facilities as well as those seen at the NIH. Specimens will be collected for research purposes.
3. Analysis of research and subject outcome data collected from the subjects enrolled in this study will generate future research studies related to common and rare bone and mineral metabolism disorders.