NCT00007046

Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: —
• Sponsor: National Center for Research Resources (NCRR) · NIH
• Sex: All
• Age: 0 Years – 90 Years
• Healthy volunteers: Accepted

Summary

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.

Detailed description

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.

Conditions

• Stenosis
• Histiocytoma

Timeline

• Start date: 2000-08-01
• First posted: 2000-12-07
• Last updated: 2005-06-24

Locations

1 site across 1 country: United States