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

Primary Purpose

Stenosis, Histiocytoma

Status

Completed

Phase

Locations

United States

Study Type

Observational

Intervention

About this trial

This is an observational trial for Stenosis focused on measuring 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

0 Years - 90 Years (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

Sites / Locations

Mount Sinai School of Medicine

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

NCT ID

NCT00007046

First Posted

December 6, 2000

Last Updated

June 23, 2005

Sponsor

National Center for Research Resources (NCRR)

Collaborators

Icahn School of Medicine at Mount Sinai

1. Study Identification

Unique Protocol Identification Number

NCT00007046

Brief Title

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

Study Type

Observational

2. Study Status

Record Verification Date

December 2003

Overall Recruitment Status

Completed

Study Start Date

August 2000 (undefined)

Primary Completion Date

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Study Completion Date

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3. Sponsor/Collaborators

Name of the Sponsor

National Center for Research Resources (NCRR)

Collaborators

Icahn School of Medicine at Mount Sinai

4. Oversight

5. Study Description

Brief Summary

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

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Stenosis, Histiocytoma

Keywords

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

7. Study Design

10. Eligibility

Sex

All

Minimum Age & Unit of Time

0 Years

Maximum Age & Unit of Time

90 Years

Accepts Healthy Volunteers

Eligibility Criteria

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

J.A. Martignetti

Organizational Affiliation

Icahn School of Medicine at Mount Sinai

Official's Role

Study Chair

Facility Information:

Facility Name

Mount Sinai School of Medicine

City

New York

State/Province

New York

ZIP/Postal Code

10029

Country

United States

12. IPD Sharing Statement

Learn more about this trial

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

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