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

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ClinicalTrials.gov Identifier: NCT00007046
Recruitment Status : Completed
First Posted : December 7, 2000
Last Update Posted : June 24, 2005
Information provided by:

Study Description
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.

Condition or disease
Stenosis Histiocytoma

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 Design

Study Type : Observational
Primary Purpose: Screening
Study Start Date : August 2000

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 90 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes


--Disease Characteristics--

Diagnosis of diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone


Family member, including spouses, of an affected individual

--Patient Characteristics--

Renal: Not specified

  • Not pregnant
  • Negative pregnancy test
  • No diminished mental capacity
  • No prisoners
Contacts and Locations

Information from the National Library of Medicine

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
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Icahn School of Medicine at Mount Sinai
Study Chair: J.A. Martignetti Icahn School of Medicine at Mount Sinai
More Information

ClinicalTrials.gov Identifier: NCT00007046     History of Changes
Other Study ID Numbers: 199/15489
First Posted: December 7, 2000    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2003

Keywords provided by National Center for Research Resources (NCRR):
arthritis & connective tissue diseases
bone cancer
diaphyseal medullary stenosis
genetic diseases and dysmorphic syndromes
malignant fibrous histiocytoma of bone
musculoskeletal/mesodermal cancer
oncologic disorders
rare disease

Additional relevant MeSH terms:
Constriction, Pathologic
Histiocytoma, Benign Fibrous
Histiocytoma, Malignant Fibrous
Pathological Conditions, Anatomical
Neoplasms, Fibrous Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type