Arrhythmia Clinical Trial
Official title:
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
NCT number | NCT00138931 |
Other study ID # | 8249 |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | September 1996 |
Est. completion date | January 2025 |
We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy. An equal number of genetic regions have been associated with muscular dystrophy and there is overlap because some of the identical genes, when mutated, produce both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to screen these samples for mutations in genes known to be involved in these disorders.
Status | Recruiting |
Enrollment | 2000 |
Est. completion date | January 2025 |
Est. primary completion date | January 2025 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - Patients of all ages will be considered for the study. In particular, families with more than one affected relative will be sought. Exclusion Criteria: - Subjects without a suspected inherited cardiovascular or neuromuscular disorder will be excluded from this study. |
Country | Name | City | State |
---|---|---|---|
United States | University of Chicago | Chicago | Illinois |
Lead Sponsor | Collaborator |
---|---|
University of Chicago |
United States,
Allikian MJ, McNally EM. Processing and assembly of the dystrophin glycoprotein complex. Traffic. 2007 Mar;8(3):177-83. doi: 10.1111/j.1600-0854.2006.00519.x. Epub 2007 Jan 26. — View Citation
Davis DB, Delmonte AJ, Ly CT, McNally EM. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum Mol Genet. 2000 Jan 22;9(2):217-26. doi: 10.1093/hmg/9.2.217. — View Citation
de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M. Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet. 2001 Apr 1;99(4):303-7. doi: 10.1002/1096-8628(2001)9999:99993.0.co;2-o. — View Citation
Dellefave L, McNally EM. Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart. Circulation. 2008 Jun 3;117(22):2847-9. doi: 10.1161/CIRCULATIONAHA.108.781518. No abstract available. — View Citation
Dellefave L, McNally EM. The genetics of dilated cardiomyopathy. Curr Opin Cardiol. 2010 May;25(3):198-204. doi: 10.1097/HCO.0b013e328337ba52. — View Citation
DeWitt MM, MacLeod HM, Soliven B, McNally EM. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J Am Coll Cardiol. 2006 Oct 3;48(7):1396-8. doi: 10.1016/j.jacc.2006.07.016. Epub 2006 Sep 12. — View Citation
Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol. 2013 Apr;73(4):481-8. doi: 10.1002/ana.23819. Epub 2013 Feb 20. — View Citation
Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM. Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet. 2012 Aug 1;5(4):391-9. doi: 10.1161/CIRCGENETICS.112.962928. Epub 2012 Jul 4. Erratum In: Circ Cardiovasc Genet. 2012 Oct 1;5(5):e48. — View Citation
Heydemann A, Demonbreun A, Hadhazy M, Earley JU, McNally EM. Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Hum Mol Genet. 2007 Feb 15;16(4):355-63. doi: 10.1093/hmg/ddl453. Epub 2006 Dec 12. — View Citation
Heydemann A, Doherty KR, McNally EM. Genetic modifiers of muscular dystrophy: implications for therapy. Biochim Biophys Acta. 2007 Feb;1772(2):216-28. doi: 10.1016/j.bbadis.2006.06.013. Epub 2006 Jul 11. — View Citation
Heydemann A, McNally EM. Consequences of disrupting the dystrophin-sarcoglycan complex in cardiac and skeletal myopathy. Trends Cardiovasc Med. 2007 Feb;17(2):55-9. doi: 10.1016/j.tcm.2006.12.002. — View Citation
Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinct — View Citation
MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, McNally EM. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr;17(4):285-9. doi: 10.1016/ — View Citation
MacLeod HM, Culley MR, Huber JM, McNally EM. Lamin A/C truncation in dilated cardiomyopathy with conduction disease. BMC Med Genet. 2003 Jul 10;4:4. doi: 10.1186/1471-2350-4-4. — View Citation
MacLeod HM, McNally EM. A pilot study of a family history risk assessment tool for cardiovascular disease. J Genet Couns. 2008 Oct;17(5):499-507. doi: 10.1007/s10897-008-9174-z. Epub 2008 Sep 13. — View Citation
McNally E, Allikian M, Wheeler MT, Mislow JM, Heydemann A. Cytoskeletal defects in cardiomyopathy. J Mol Cell Cardiol. 2003 Mar;35(3):231-41. doi: 10.1016/s0022-2828(03)00018-x. — View Citation
McNally EM, Duggan D, Gorospe JR, Bonnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 1996 Nov;5(11):1841-7. doi: 10.1093/hmg/5.11.1841. — View Citation
McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet. 2000 Apr 10;91(4):305-12. doi: 10.1002/(sici)1096-8628(20000410)91:43.0.co;2-s. — View Citation
McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov;59(5):1040-7. — View Citation
McNally EM, Patel AR. Cardiac magnetic resonance of left ventricular trabeculation: the new normal. Circ Cardiovasc Imaging. 2011 Mar;4(2):84-6. doi: 10.1161/CIRCIMAGING.110.962472. No abstract available. — View Citation
McNally EM, Pytel P. Muscle diseases: the muscular dystrophies. Annu Rev Pathol. 2007;2:87-109. doi: 10.1146/annurev.pathol.2.010506.091936. — View Citation
McNally EM, Sparano D. Mechanisms and management of the heart in myotonic dystrophy. Heart. 2011 Jul;97(13):1094-100. doi: 10.1136/hrt.2010.214197. — View Citation
McNally EM, Towbin JA. Cardiomyopathy in muscular dystrophy workshop. 28-30 September 2003, Tucson, Arizona. Neuromuscul Disord. 2004 Jul;14(7):442-8. doi: 10.1016/j.nmd.2004.04.003. No abstract available. — View Citation
McNally EM. Beta-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy: the usual suspect? Circ Res. 2002 Feb 22;90(3):246-7. No abstract available. — View Citation
McNally EM. New approaches in the therapy of cardiomyopathy in muscular dystrophy. Annu Rev Med. 2007;58:75-88. doi: 10.1146/annurev.med.58.011706.144703. — View Citation
Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997 Oct;61(4):909-17. doi: 10.1086/514896. — View Citation
Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res. 2003 Dec 10;291(2):352-62. doi: 10.1016/j.yexcr.2003.07.002. — View Citation
Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 3;270(5237):819-22. doi: 10.1126/science.270.5237.819. — View Citation
Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG. Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. Neuromuscul Disord. 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2. — View Citation
Posey AD Jr, Demonbreun A, McNally EM. Ferlin proteins in myoblast fusion and muscle growth. Curr Top Dev Biol. 2011;96:203-30. doi: 10.1016/B978-0-12-385940-2.00008-5. — View Citation
Puckelwartz MJ, Depreux FF, McNally EM. Gene expression, chromosome position and lamin A/C mutations. Nucleus. 2011 May-Jun;2(3):162-7. doi: 10.4161/nucl.2.3.16003. — View Citation
Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. doi: 10.1016/j.yjmcc.2009.11.006. Epub 2009 Nov 24. — View Citation
Puckelwartz MJ, Pesce LL, Nelakuditi V, Dellefave-Castillo L, Golbus JR, Day SM, Cappola TP, Dorn GW 2nd, Foster IT, McNally EM. Supercomputing for the parallelization of whole genome analysis. Bioinformatics. 2014 Jun 1;30(11):1508-13. doi: 10.1093/bioin — View Citation
Romfh A, McNally EM. Cardiac assessment in duchenne and becker muscular dystrophies. Curr Heart Fail Rep. 2010 Dec;7(4):212-8. doi: 10.1007/s11897-010-0028-2. — View Citation
Swaggart KA, Heydemann A, Palmer AA, McNally EM. Distinct genetic regions modify specific muscle groups in muscular dystrophy. Physiol Genomics. 2011 Jan 7;43(1):24-31. doi: 10.1152/physiolgenomics.00172.2010. Epub 2010 Oct 19. — View Citation
Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M. Dysferlin protein analysis in limb-girdle muscular dystrophies. J Mol Neurosci. 2001 Aug;17(1):71-80. doi: 10.1385/JMN:17:1:71. — View Citation
van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet. 1997 Apr;60(4):891-5. — View Citation
Wheeler MT, Zarnegar S, McNally EM. Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum Mol Genet. 2002 Sep 1;11(18):2147-54. doi: 10.1093/hmg/11.18.2147. — View Citation
* Note: There are 38 references in all — Click here to view all references
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Primary | Identification of genetic causes of cardiomyopathy | unlimited |
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