Genetics of Cardiovascular and Neuromuscular Disease - Full Text View

Purpose

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.

Condition	Intervention
Cardiomyopathy Arrhythmia Muscular Dystrophy	Procedure: Blood draw (genetic testing)

Study Type:	Observational
Study Design:	Observational Model: Family-Based
Official Title:	Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.

Resource links provided by NLM:

MedlinePlus related topics: Arrhythmia Cardiomyopathy Genetic Testing Muscular Dystrophy Neuromuscular Disorders

U.S. FDA Resources

Further study details as provided by University of Chicago:

Estimated Enrollment:	2000
Study Start Date:	September 1996

Intervention Details:

Blood draw (genetic testing)

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Patients of all ages with familial idiopathic cardiomyopathy, including dilated, hypertrophic, and left ventricular non-compaction cardiomyopathy

Criteria

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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00138931

Contacts

Contact: Lisa Dellefave, MS	773-702-4310	Ldellefa@medicine.bsd.uchicago.edu
Contact: Elizabeth McNally, MD PhD	773-702-2679	emcnally@uchicago.edu

Locations

United States, Illinois
University of Chicago	Recruiting
Chicago, Illinois, United States, 60637
Contact: Lisa Dellefave, MS 773-702-4310 Ldellefa@medicine.bsd.uchicago.edu

Sponsors and Collaborators

University of Chicago

Investigators

Principal Investigator:

Elizabeth McNally, MD PhD

University of Chicago

More Information

Additional Information:

McNally Lab Homepage This link exits the ClinicalTrials.gov site

Publications:

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.

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.

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.

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.

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.

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.

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.

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.

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.

Vainzof, M., L. V.B. Anderson, E. M. McNally, D. B. Davis, G. Faulkner, E. S. Moreira, R. C. M. Pavanello, M. R. Passos-Bueno and M. Zatz. Dysferlin protein analysis in the muscular dystrophies. (2001) J. Mol. Neurosci. 1:71-80.

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.

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.

McNally E, Allikian M, Wheeler MT, Mislow JM, Heydemann A. Cytoskeletal defects in cardiomyopathy. J Mol Cell Cardiol. 2003 Mar;35(3):231-41. Review.

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.

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.

McNally, E. M. and J. A. Towbin. Cardiomyopathy in Muscular Dystrophy. (2004) Neuromusc. Disorders 14:442-8.

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. Epub 2006 Sep 12.

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct;2(5):442-9. Epub 2009 Jul 24.

Responsible Party:	Elizabeth McNally, The University of Chicago
ClinicalTrials.gov Identifier:	NCT00138931 History of Changes
Other Study ID Numbers:	8249
Study First Received:	August 29, 2005
Last Updated:	July 16, 2008
Health Authority:	United States: Institutional Review Board

Keywords provided by University of Chicago:

Cardiomyopathy
Arrhythmia
Muscular Dystrophy

Additional relevant MeSH terms:

Arrhythmias, Cardiac
Muscular Dystrophies
Neuromuscular Diseases
Cardiomyopathies
Heart Diseases
Cardiovascular Diseases

Pathologic Processes
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on June 17, 2013