Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2001-11-19
Brief Summary
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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.
Detailed Description
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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.
Conditions
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Keywords
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Study Design
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CASE_ONLY
PROSPECTIVE
Study Groups
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1
Subjects with known or suspected bone disease and disorder of mineral metabolism.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
1. Age 1 day of life or older
2. 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.
3. 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
1 Day
100 Years
ALL
No
Sponsors
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National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Responsible Party
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Principal Investigators
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Kelly B Roszko, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Institute of Dental and Craniofacial Research (NIDCR)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
References
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Theng EH, Brewer CC, Oheim R, Zalewski CK, King KA, Delsmann MM, Rolvien T, Gafni RI, Braddock DT, Jeffrey Kim H, Ferreira CR. Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). Orphanet J Rare Dis. 2022 Jul 19;17(1):273. doi: 10.1186/s13023-022-02410-w.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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01-D-0184
Identifier Type: -
Identifier Source: secondary_id
010184
Identifier Type: -
Identifier Source: org_study_id