Expired Study
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New York, New York 10029


Purpose:

OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone. II. Determine the clinical manifestations of this disease in these patients.


Study summary:

PROTOCOL OUTLINE: Blood samples are obtained from affected individuals and their family members after genetic counseling. Genetic linkage analysis is performed on these blood samples. Unaffected individuals undergo x-rays and technetium bone scans to detect the presence of bone disease. Affected individuals undergo bone densitometry, MRI studies, thallium scans, ophthalmologic examination, electrocardiogram, echocardiogram, and skin biopsies. Affected family members identified after radiologic studies receive additional genetic counseling.


Criteria:

PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Diagnosis of diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone OR Family member, including spouses, of an affected individual --Patient Characteristics-- Renal: Not specified - Not pregnant - Negative pregnancy test - No diminished mental capacity - No prisoners


NCT ID:

NCT00007046


Primary Contact:

Study Chair
J.A. Martignetti
Mount Sinai School of Medicine


Backup Contact:

N/A


Location Contact:

New York, New York 10029
United States



There is no listed contact information for this specific location.

Site Status: N/A


Data Source: ClinicalTrials.gov

Date Processed: September 25, 2017

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