Evaluation and Treatment of Patients With Connective Tissue Disease
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00076830|
Recruitment Status : Completed
First Posted : February 4, 2004
Last Update Posted : January 9, 2023
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.
|Condition or disease|
|Connective Tissue Disorders Osteogenesis Imperfecta Bone Diseases, Metabolic Melorheostosis|
|Study Type :||Observational|
|Actual Enrollment :||180 participants|
|Official Title:||Investigations of Bone-Related Connective Tissue Disorders|
|Actual Study Start Date :||May 18, 2004|
All patients enrolled, as this is an evaluation/diagnostic study
- Evaluation and Diagnosis [ Time Frame: per individual cases ]Evaluation of individuals with suspected bone-related connective tissue disorders and their family members
- Biospecimens collection [ Time Frame: 12/31/2030 ]Collection of biospecimens for use in clinical and basic science research of bone-related connective tissue disorders and controls
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00076830
|United States, Maryland|
|National Institutes of Health Clinical Center|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Joshua J Zimmerberg, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|