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N/A
N/A
90 Years
Not Enrolling
Both
Stenosis, Histiocytoma

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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 MedicineNew York, New York  10029