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

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.

Completed

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Key information

Conditions

Stenosis Arthritis Bone Diseases Bone Neoplasms Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Constriction, Pathologic Disease Attributes Genetic Diseases, Inborn Histiocytoma Histiocytoma, Malignant Fibrous Joint Diseases Musculoskeletal Diseases Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Connective Tissue Neoplasms, Connective and Soft Tissue Neoplasms, Fibrous Tissue Pathologic Processes Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Rare Diseases Sarcoma Skin and Connective Tissue Diseases

Age range

0 year–90 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Mount Sinai School of Medicine

New York, 10029, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Sponsors and collaborators

Lead sponsor

National Center for Research Resources (NCRR)

Nih

Collaborators

Icahn School of Medicine at Mount Sinai

Registry information

Important dates

Study start: 2000
First posted: Dec 7, 2000
Registry last updated: Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed