Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone - Full Text View

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

This study has been completed.

Sponsors and Collaborators:	National Center for Research Resources (NCRR) Mount Sinai School of Medicine
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00007046

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

MedlinePlus related topics:

Cancer

U.S. FDA Resources

Study Type:	Observational
Study Design:	Screening

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

Ages Eligible for Study:	up to 90 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

PROTOCOL ENTRY CRITERIA:

--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

Please refer to this study by its ClinicalTrials.gov identifier: 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)

Mount Sinai School of Medicine

Investigators


Study Chair:	J.A. Martignetti	Mount Sinai School of Medicine

More Information

Study ID Numbers:	199/15489, MTS-97-304-0001-HG, MTS-GCO-97-304HG
First Received:	December 6, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00007046
Health Authority:	United States: Federal Government

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

Study placed in the following topic categories:

Pathological Conditions, Anatomical

Histiocytoma, Malignant Fibrous

Bone Neoplasms

Histiocytoma, Benign Fibrous

Malignant mesenchymal tumor

Bone neoplasms

Rare Diseases

Constriction, Pathologic

Soft tissue sarcomas

Neoplasms, Connective and Soft Tissue

Histiocytoma

Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Arthritis

Connective Tissue Diseases

Sarcoma

Malignant fibrous histiocytoma

Additional relevant MeSH terms:

Neoplasms

Neoplasms by Histologic Type

Neoplasms, Connective Tissue

Neoplasms, Fibrous Tissue

ClinicalTrials.gov processed this record on October 10, 2008