Evaluation and Treatment of Patients With Connective Tissue Disease

This study is currently recruiting participants.

Verified April 2013 by National Institutes of Health Clinical Center (CC)

Sponsor:

Information provided by:

National Institutes of Health Clinical Center (CC)

ClinicalTrials.gov Identifier:

NCT00076830

First received: July 12, 2006

Last updated: April 25, 2013

Last verified: April 2013

History of Changes

Purpose

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
Connective Tissue Disorders

Study Type:	Observational
Official Title:	Screening and Diagnosis of Patients With Connective Tissue Disorders

Resource links provided by NLM:

MedlinePlus related topics: Connective Tissue Disorders

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment:	400
Study Start Date:	February 2004

Detailed Description:

We propose to diagnose and treat certain 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. Many patients seen

under this protocol will go on to enroll in a specific disease-related protocol.

Eligibility

Ages Eligible for Study:	up to 70 Years
Genders Eligible for Study:	Both
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. 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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00076830

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 Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.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

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

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. No abstract available.

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.

ClinicalTrials.gov Identifier:	NCT00076830 History of Changes
Other Study ID Numbers:	040077, 04-CH-0077
Study First Received:	July 12, 2006
Last Updated:	April 25, 2013
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Errors of Bone Matrix and Metabolism
Connective Tissue Disorders

Additional relevant MeSH terms:

Connective Tissue Diseases

ClinicalTrials.gov processed this record on May 23, 2013

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