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

NCT ID: NCT00007046

Last Updated: 2005-06-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Study Classification

OBSERVATIONAL

Study Start Date

2000-08-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Stenosis Histiocytoma

Keywords

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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

Eligibility Criteria

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Inclusion 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
Minimum Eligible Age

0 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Icahn School of Medicine at Mount Sinai

OTHER

Sponsor Role collaborator

National Center for Research Resources (NCRR)

NIH

Sponsor Role lead

Principal Investigators

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J.A. Martignetti

Role: STUDY_CHAIR

Icahn School of Medicine at Mount Sinai

Locations

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Mount Sinai School of Medicine

New York, New York, United States

Site Status

Countries

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United States

Other Identifiers

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MTS-97-304-0001-HG

Identifier Type: -

Identifier Source: secondary_id

MTS-GCO-97-304HG

Identifier Type: -

Identifier Source: secondary_id

199/15489

Identifier Type: -

Identifier Source: org_study_id