Genetic Study of Patients and Families With Diaphyseal Me... | NCT00007046

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

NCT00007046

Sponsor

National Center for Research Resources (NCRR)

Status

Completed

Last Update Posted

Jun 24, 2005Estimated

Enrollment

Not provided

Phase

Not provided

Conditions

Stenosis
Histiocytoma

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2003

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Aug 2000

Primary Completion Date

Not provided

Completion Date

Not provided

First Submitted Date

Dec 6, 2000

First Submission Date that Met QC Criteria

Dec 6, 2000

First Posted Date

Dec 7, 2000Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 23, 2005

Last Update Posted Date

Jun 24, 2005Estimated

Name	Class
Icahn School of Medicine at Mount Sinai	OTHER

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

No data available

No data is available for this block.

Biospecimen

No data available

No data is available for this block.

Enrollment

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Years

Maximum Age

90 Years

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
J.A. Martignetti	Icahn School of Medicine at Mount Sinai	Study Chair

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Mount Sinai School of Medicine		New York	New York	10029	United States

Condition Browse Module

MeSH Terms

ID	Term
D003251	Constriction, Pathologic
D051642	Histiocytoma
D001168	Arthritis
D003240	Connective Tissue Diseases
D001859	Bone Neoplasms
D030342	Genetic Diseases, Inborn
D051677	Histiocytoma, Malignant Fibrous
D035583	Rare Diseases

Ancestor Terms

ID	Term
D020763	Pathological Conditions, Anatomical
D013568	Pathological Conditions, Signs and Symptoms
D018218	Neoplasms, Fibrous Tissue
D009372	Neoplasms, Connective Tissue

Browse Leaves

Not provided

Browse Branches

Not provided

ID	Type	Description	Link
MTS-97-304-0001-HG
MTS-GCO-97-304HG