Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00007046|
Recruitment Status : Completed
First Posted : December 7, 2000
Last Update Posted : June 24, 2005
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 or disease|
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 Type :||Observational|
|Study Start Date :||August 2000|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00007046
|United States, New York|
|Mount Sinai School of Medicine|
|New York, New York, United States, 10029|
|Study Chair:||J.A. Martignetti||Icahn School of Medicine at Mount Sinai|