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

This study has been completed.

First Received on December 6, 2000. Last Updated on June 23, 2005 History of Changes

Sponsor:	National Center for Research Resources (NCRR)
Collaborator:	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

Study Type:	Observational
Study Design:	Primary Purpose: Screening

Resource links provided by NLM:

Genetics Home Reference related topics: Help Me Understand Genetics

MedlinePlus related topics: Cancer

U.S. FDA Resources

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

No publications provided

ClinicalTrials.gov Identifier:	NCT00007046 History of Changes
Other Study ID Numbers:	199/15489, MTS-97-304-0001-HG, MTS-GCO-97-304HG
Study First Received:	December 6, 2000
Last Updated:	June 23, 2005
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

Additional relevant MeSH terms:

Histiocytoma
Histiocytoma, Benign Fibrous
Constriction, Pathologic
Histiocytoma, Malignant Fibrous
Bone Diseases, Developmental
Neoplastic Syndromes, Hereditary
Neoplasms, Fibrous Tissue
Neoplasms, Connective Tissue

Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Neoplasms
Pathological Conditions, Anatomical
Sarcoma
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on February 12, 2012