Manifestations of Heritable Disorders of Connective Tissue - No Study Results Posted - ClinicalTrials.gov

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Manifestations of Heritable Disorders of Connective Tissue

This study is currently recruiting participants.

Study NCT00270686 Information provided by National Institutes of Health Clinical Center (CC)

First Received: December 27, 2005 Last Updated: October 26, 2010 History of Changes

No Study Results Posted on ClinicalTrials.gov for this Study

About Study Results Reporting on ClinicalTrials.gov

Study Status:	This study is currently recruiting participants.
Estimated Study Completion Date:	December 2013
Estimated Primary Completion Date:	December 2013 (Final data collection date for primary outcome measure)

Publications:

McDonnell NB, Gorman BL, Mandel KW, Schurman SH, Assanah-Carroll A, Mayer SA, Najjar SS, Francomano CA. Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. Am J Med Genet A. 2006 Jan 15;140(2):129-36.

Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg Spine. 2007 Dec;7(6):601-9.

Milhorat TH, Bolognese PA, Nishikawa M, Francomano CA, McDonnell NB, Roonprapunt C, Kula RW. Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale. Surg Neurol. 2009 Jul;72(1):20-35. Erratum in: Surg Neurol. 2009 Nov;72(5):556.

Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, Carlson OD, Griswold BF, Fu Q, De Backer J, Loeys B, Huso DL, McDonnell NB, Van Eyk JE, Dietz HC; GenTAC Consortium. Circulating transforming growth factor-beta in Marfan syndrome. Circulation. 2009 Aug 11;120(6):526-32. Epub 2009 Jul 27.

Brooke BS, Arnaoutakis G, McDonnell NB, Black JH 3rd. Contemporary management of vascular complications associated with Ehlers-Danlos syndrome. J Vasc Surg. 2010 Jan;51(1):131-8; discussion 138-9. Epub 2009 Oct 30.

Chen W, Kim MS, Shanbhag S, Arai A, VanRyzin C, McDonnell NB, Merke DP. The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects. Am J Med Genet A. 2009 Dec;149A(12):2803-8.

McDonnell NB. Hereditary Disorders of Connective Tissue. Maryland Family Doctor. Volume 45, No. 1 Summer 2008, 16-17.

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