Evaluation and Treatment of Patients With Connective Tissue Disease
NCT00076830 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 180
Last updated 2026-05-22
Summary
This study offers evaluation and treatment of patients with a suspected connective tissue disorder. The protocol is not designed to test new treatments; rather, patients receive standard care. The study is designed to: 1) allow NICHD's staff to learn more about connective tissue disorders, 2) train physicians in the evaluation and treatment of these disorders; and 3) establish a pool of patients who may be eligible for other NICHD protocols for connective tissue disorders. (Participants in this protocol will not be required to join another study; the decision will be voluntary.)
Patients of all ages with a suspected connective tissue disorder and their unaffected family members may be eligible for this study.
Participants undergo diagnostic procedures that may include a medical history, physical examination, X-ray studies, eye examinations, and blood drawing, as well as other specialized tests, when needed. Additional tests may include:
* Blood test for DNA genetic analysis
* Skin biopsy: Removal of a small piece of tissue for microscopic examination. The area of skin selected for the biopsy is numbed and a small circle of skin, usually from the upper arm, is removed with a surgical cookie cutter-like instrument.
* Magnetic resonance imaging (MRI): This test uses a strong magnetic field and radio waves to show structural and chemical changes in tissues. The patient lies on a table that slides into a narrow cylinder containing a magnetic field. Ear plugs are worn to muffle loud knocking and thumping sounds that occur with electrical switching of the magnetic fields.
* Computed tomography (CT) scans: This test allows the doctor to view the organs inside the body in small sections. The patient lies in a doughnut-like machine. Scanning can be done from different angles, allowing a three dimensional picture of the part of the body being studied. It may be done with or without injection of a contrast material.
* Referral to appropriate sub-specialists when potential complications are found.
Conditions
- Connective Tissue Disorders
- Osteogenesis Imperfecta
- Bone Diseases, Metabolic
- Melorheostosis
Sponsors & Collaborators
-
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
lead NIH
Principal Investigators
-
Joshua J Zimmerberg, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Eligibility
- Max Age
- 70 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2004-05-18
Countries
- United States
Study Locations
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