Protocol Number: 97-D-0055

Title:

Studies on Tissues from Patients with Fibrous Dysplasia of Bone/McCune-Albright Syndrome and Other Disorders of Calcified Tissues

Number:

97-D-0055

Summary:

This study will investigate how a gene mutation (change in DNA) causes the abnormal bone in fibrous dysplasia-a condition in which areas of normal bone are replaced with a fibrous growth similar to a scar. The bone abnormalities in fibrous dysplasia can occur in a single bone (monostotic fibrous dysplasia), multiple bones (polyostotic fibrous dysplasia), or in McCune Albright syndrome, in which there are associated glandular abnormalities. This study will also examine calcinosis samples that have been surgically removed from patients with juvenile dermatomyositis.

Patients who are scheduled to have orthopedic surgery for treatment of polyostotic fibrous dysplasia may participate in this study. A small sample of bone tissue removed during surgery will be given to investigators in this study for research tests. DNA will be extracted from the tissue and tested for the mutation. Investigators will attempt to grow cells from the sample in the laboratory to evaluate them for their ability to grow and make proteins that normal bone cells make. These tests are designed to help scientists understand how the mutation leads to abnormal bone formation and provide information that might lead to better treatments for fibrous dysplasia. Patients with juvenile Dermatomyositis who have a calcinosis sample surgically removed are also eligible for participation. The removed tissues will be examined for their composition and microscopic appearance, to better understand the pathogenesis of dystrophic calcification in this disease.

Sponsoring Institute:

National Institute of Dental And Craniofacial Research (NIDCR)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

All patients who are scheduled to have orthopedic surgery for treatment of polyostotic fibrous dysplasia (PFD).

Tissue will only be obtained from those patients in whom the procedure is clinically indicated for standard reasons such as treatment of or prevention of fractures, or disfigurement resulting from abnormal growth of facial and/ or skull bones.

The diagnosis of PFD will have been established by standard radiologic criteria and in patients with McCune Albright syndrome (MAS), also by the characteristic skin and endocrine manifestations associated with that form of the disease.

Patients meeting criteria for juvenile dermatomyositis who undergo surgical removal of calcinosis are eligible. The tissue from surgery would be used in the research study.

Special Instructions:

Currently Not Provided

Keywords:

G Protein Mutation

McCune-Albright Syndrome

Fibrous Dysplasia

Mutation

Pathology

Immunohistochemistry

PCR

In Situ Hybridization

Juvenile Dermatomyositis

Calcinosis

Recruitment Keyword(s):

None

Condition(s):

Polyostotic Fibrous Dysplasia

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Dental and Craniofacial Research

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s): Not Provided

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 09/15/2008