Trial Information
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.
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
Type of Study:
Observational
Study Design:
Primary Purpose: Screening
Principal Investigator
J.A. Martignetti
Investigator Role:
Study Chair
Investigator Affiliation:
Mount Sinai School of Medicine
Authority:
United States: Federal Government
Study ID:
199/15489
NCT ID:
NCT00007046
Start Date:
August 2000
Completion Date:
Related Keywords:
- Stenosis
- Histiocytoma
- 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
- Histiocytoma
- Histiocytoma, Benign Fibrous
- Constriction, Pathologic
- Histiocytoma, Malignant Fibrous
- Bone Diseases, Developmental
- Neoplastic Syndromes, Hereditary
Name | Location |
Mount Sinai School of Medicine |
New York, New York 10029 |