Bethesda, Maryland 20892

  • Familial Tumoral Calcinosis


This study has four objectives: 1) to provide investigators the opportunity to study bone specimens from patients with various skeletal diseases; 2) to treat patients with skeletal diseases at the NIH; 3) to expose NIH trainees to certain skeletal diseases; and 4) to gain more knowledge about skeletal diseases and stimulate further study of bone biology. Anyone with a disease that affects the skeleton may be eligible for this study. All evaluations, tests, procedures and treatments given study participants are used in the standard care of skeletal diseases. No experimental evaluations or treatments are offered. Patient evaluations include a medical history, review of medical records and routine physical examination. Based on the findings, other procedures may be recommended, including blood tests, urine tests, and imaging tests, such as X-rays, bone densitometry, bone scan, computed tomography (CT) and magnetic resonance imaging (MRI). Bone specimens from participants will be collected for research use. Specimens will be obtained from bone removed during a patient s planned surgical procedure performed for medical care, or patients may be requested to have a bone biopsy removal of a small piece of bone tissue as part of the patient evaluation procedure.

Study summary:

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.


- INCLUSION CRITERIA: 1. Age 2 months or older 2. Subjects with 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 history consistent with or suggestive of a bone disease. 3. Subjects with 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 history consistent with or suggestive of a disorder of mineral metabolism. EXCLUSION CRITERIA: 1. Subjects unwilling or unable to abide by procedures of protocol.



Primary Contact:

Principal Investigator
Rachel I Gafni, M.D.
National Institute of Dental and Craniofacial Research (NIDCR)

Winsome P Boykin, C.R.N.P.
Phone: (301) 480-4382

Backup Contact:

Rachel I Gafni, M.D.
Phone: (301) 594-9924

Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Phone: 800-411-1222

Site Status: Recruiting

Data Source:

Date Processed: November 27, 2022

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