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Protocol Number:
04-CH-0077
- Title:
Screening and Diagnosis of Patients With Connective Tissue Disorders
- Number:
04-CH-0077
- 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.
- Sponsoring Institute:
-
National Institute of Child Health and Human Development (NICHD)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility 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.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Errors of Bone Matrix and Metabolism
-
Connective Tissue Disorders
- Recruitment Keyword(s):
-
Connective Tissue Disorders
- Condition(s):
-
Connective Tissue Disorders
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Institute of Child Health and Human Development
- Contact(s):
-
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793
Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
-
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.
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Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC. Prolyl 3-hydroxylase 1 Deficiency Causes a Recessive Metabolic Bone Disorder Resembling Lethal/Severe Osteogenesis Imperfecta. Nat Genet. 2007 Mar;39(3):359-65. Epub 2007 Feb 4.
-
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P,Rauch F, Glorieux FH, Vranka J, BŠchinger 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.
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