Exploring the genetics behind heart and muscle diseases
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
This study is trying to find out how genetics play a role in heart and muscle diseases by looking at blood samples from families with these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Sex | All |
| Sponsor | University of Chicago Academic / other |
| Locations | 1 site (Chicago, Illinois) |
| Trial ID | NCT00138931 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding the genetic factors associated with cardiovascular and neuromuscular diseases, specifically cardiomyopathy, arrhythmias, and muscular dystrophy. Researchers will collect blood samples to screen for mutations in genes linked to these disorders. The study aims to identify genetic regions that contribute to the development of these conditions, particularly in families with multiple affected members. By examining these genetic factors, the research seeks to enhance our understanding of the hereditary nature of these diseases.
Who should consider this trial
Good fit: Ideal candidates include patients of all ages, especially those from families with multiple members affected by inherited cardiovascular or neuromuscular disorders.
Not a fit: Patients without a suspected inherited cardiovascular or neuromuscular disorder may not receive any benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic screening and targeted therapies for patients with cardiovascular and neuromuscular diseases.
How similar studies have performed: Other studies have shown success in identifying genetic mutations related to similar conditions, indicating that this approach is promising.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Chicago, Illinois
- University of Chicago — Chicago, Illinois, United States (Recruiting)
Study contacts
- Principal investigator: Elizabeth McNally, MD PhD — University of Chicago
- Study coordinator: Lisa Dellefave, MS
- Email: Ldellefa@medicine.bsd.uchicago.edu
- Phone: 773-702-4310
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.