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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00007046
First Posted: December 7, 2000
Last Update Posted: December 9, 2005
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.
Collaborator:
Icahn School of Medicine at Mount Sinai
Information provided by:
National Center for Research Resources (NCRR)
  Purpose

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

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:


Further study details as provided by National Center for Research Resources (NCRR):

Study Start Date: August 2000
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.

  Eligibility

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
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
  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


Locations
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
Investigators
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
MTS-97-304-0001-HG
MTS-GCO-97-304HG
First Submitted: December 6, 2000
First Posted: December 7, 2000
Last Update Posted: December 9, 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:
Histiocytoma
Histiocytoma, Benign Fibrous
Histiocytoma, Malignant Fibrous
Constriction, Pathologic
Pathological Conditions, Anatomical
Neoplasms, Fibrous Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Neoplasms
Sarcoma