Bethesda, Maryland 20892


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.

Study summary:

This protocol allows for the screening and diagnosis of a broad array of patients with disorders of bone and connective tissue, and in so doing to expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. This protocol also serves as a basis for permitting collaborations with other investigators regarding rare, illustrative, or poorly defined human diseases. Many patients seen under this protocol will go on to enroll in a specific disease-related protocol


- INCLUSION CRITERIA: Patients with a suspected connective tissue disorder and their unaffected family members will be eligible for inclusion in this protocol. Patients with a clinically severe bone dysplasia, who lack a specific diagnosis because a collagen mutation was undetectable through standard collagen testing, or families that have experienced unexplained fetal or infantile deaths attributed to type II OI, and/or consanguinity, will be admitted under this protocol for further clinical evaluation and genetic analysis. They will be admitted as inpatients or outpatients at the discretion of the Principal Investigator, based upon research interests and expertise. Patients under one month of age will be admitted only if they are in good health and require admission to the Clinical Center for confirmation of a presumptive diagnosis based upon family history. There are only three non-profit institutions that provide testing for recessive OI, our lab the Section on Heritable Disorders of Bone and Extracellular Matrix at the NICHD, the Genetics department lab at Baylor College, and the Pathology Department at Washington University in Seattle. Additionally, tissue specimens donated by volunteers for the purpose of serving as normal control samples will also fall under this protocol. This will enhance the ability of confirming a diagnosis of an affected proband.



Primary Contact:

Principal Investigator
Joan C Marini, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Joan C Marini, M.D.
Phone: (301) 594-3418

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)
Phone: 800-411-1222

Site Status: Recruiting

Data Source:

Date Processed: June 25, 2018

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