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

Completed

• Conditions: Stenosis; Histiocytoma

• Registration Number: NCT00007046
• Lead Sponsor: National Center for Research Resources (NCRR)

Brief 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.

Study Timeline

• Study Start: 2000-08
• Study First Submitted: 2000-12-06
• Study First Submitted QC: 2000-12-06
• Study First Posted: 2000-12-07
• Status Verified: 2003-12
• Last Update Submitted: 2005-06-23
• Last Update Posted: 2005-06-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

Mount Sinai School of Medicine; 🇺🇸 New York, New York, United States