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.

Condition
Stenosis Histiocytoma

Further Study Details: 

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.

Ages Eligible for Study:  up to  90 Years,  Genders Eligible for Study:  Both

Accepts Healthy Volunteers

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

New York
      Mount Sinai School of Medicine, New York,  New York,  10029,  United States

Study chairs or principal investigators

J.A. Martignetti,  Study Chair,  Mount Sinai Medical Center   

Study ID Numbers:  199/15489; MTS-97-304-0001-HG; MTS-GCO-97-304HG
Record last reviewed:  December 2003
Last Updated:  October 13, 2004
Record first received:  December 6, 2000
ClinicalTrials.gov Identifier:  NCT00007046
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08