Evaluation and Treatment of Patients With Connective Tissue Disease

Study Description

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Brief 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.

Condition or disease
Connective Tissue Disorders

Detailed Description:

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

Study Design

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Study Type :	Observational
Estimated Enrollment :	400 participants
Official Title:	Screening and Diagnosis of Patients With Connective Tissue Disorders
Study Start Date :	February 3, 2004

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	up to 70 Years (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

• 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.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

Contact: Joan C Marini, M.D.	(301) 594-3418	marinij@mail.nih.gov

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@cc.nih.gov

Sponsors and Collaborators

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Investigators

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

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

Publications:

Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006 Dec 28;355(26):2757-64.

Guslandi M, Tittobello A. Mucosal sensitivity to acid in nonulcer dyspepsia. Gastroenterology. 1992 Jan;102(1):376-7.

Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304.

Responsible Party:	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier:	NCT00076830 History of Changes
Other Study ID Numbers:	040077; 04-CH-0077
First Posted:	February 4, 2004
Last Update Posted:	May 14, 2018
Last Verified:	January 23, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):

Errors of Bone Matrix and Metabolism; Connective Tissue Disorders

Additional relevant MeSH terms:

Connective Tissue Diseases