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Genetics of Cardiovascular and Neuromuscular Disease

Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT00138931
Enrollment
2000
Registered
2005-08-30
Start date
1996-09-30
Completion date
2030-01-31
Last updated
2025-09-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Arrhythmia, Cardiomyopathy, Muscular Dystrophy

Keywords

Cardiomyopathy, Arrhythmia, Muscular Dystrophy

Brief summary

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.

Interventions

PROCEDUREBlood draw (genetic testing)

Blood draw (genetic testing)

Sponsors

University of Chicago
Lead SponsorOTHER

Study design

Observational model
FAMILY_BASED
Time perspective
OTHER

Eligibility

Sex/Gender
ALL
Healthy volunteers
No

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.

Design outcomes

Primary

MeasureTime frame
Identification of genetic causes of cardiomyopathyunlimited

Countries

United States

Contacts

Primary ContactLisa Dellefave, MS
Ldellefa@medicine.bsd.uchicago.edu773-702-4310
Backup ContactElizabeth McNally, MD PhD
emcnally@uchicago.edu773-702-2679

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Apr 11, 2026