Recruiting

NCT Number: NCT00138931

Genetics of Cardiovascular and Neuromuscular Disease

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.

Recruiting

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Key information

Conditions

Cardiomyopathy Arrhythmia Arrhythmias, Cardiac Cardiomyopathies Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Chicago

Chicago, Illinois, 60637, United States

Location status: Recruiting

Location contact

Lisa Dellefave, MS

CONTACT

[email protected]

773-702-4310

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Blood draw (genetic testing)

Procedure

Blood draw (genetic testing)

Primary outcomes

Identification of genetic causes of cardiomyopathy

Time frame: unlimited

Study contacts

Contact information is provided by the study sponsor or research team.

Elizabeth McNally, MD PhD

CONTACT

[email protected]

773-702-2679

Lisa Dellefave, MS

CONTACT

[email protected]

773-702-4310

Sponsors and collaborators

Lead sponsor

University of Chicago

Other

Registry information

Official study title

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

Important dates

Study start: 1996
Primary completion: 2030
Study completion: 2030
First posted: Aug 30, 2005
Registry last updated: Sep 9, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Recruiting