Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
S Noguchi, E M McNally, K Ben Othmane...
https://pubmed.ncbi.nlm.nih.gov/7481775Actively Recruiting
All Genders
ID00138931
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases
Led by University of Chicago · Updated on 2025-09-09
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the genetics behind cardiovascular and neuromuscular diseases, focusing on conditions like cardiomyopathy, arrhythmias, and muscular dystrophy. These diseases share some genetic causes, and the study aims to identify specific genes and mutations linked to these disorders. This observational study is sponsored by the University of Chicago and seeks to better understand inherited forms of these conditions. Participants in the study will undergo a blood draw for genetic testing. The study involves screening genetic samples for mutations in genes known to be associated with cardiomyopathy, arrhythmias, and muscular dystrophy. There are no treatment interventions as this is an observational genetic study. During participation, individuals will provide blood samples that will be analyzed to identify genetic causes of cardiomyopathy. The study involves collecting genetic information without altering standard medical care. Researchers will review the genetic data to understand inherited disease patterns. Participation duration and follow-up details are not specified, as this is a genetic observational study.
CONDITIONS
Brief Title
Genetics of Cardiovascular and Neuromuscular Disease
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Patients of all ages will be considered for the study.
- Families with more than one affected relative will be sought.
You will not qualify if you...
- Subjects without a suspected inherited cardiovascular or neuromuscular disorder will be excluded from this study.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Sample Collection
Duration - Not specified
Participants provide blood samples for genetic testing to identify inherited cardiovascular and neuromuscular diseases.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
University of Chicago
Chicago, Illinois, United States, 60637
Actively Recruiting
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Research Team
L
Lisa Dellefave, MS
E
Elizabeth McNally, MD PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
E M McNally, D Duggan, J R Gorospe...
https://pubmed.ncbi.nlm.nih.gov/8923014Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
E M McNally, M R Passos-Bueno, C G Bönnemann...
https://pubmed.ncbi.nlm.nih.gov/8900232Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
A J van der Kooi, M van Meegen, T M Ledderhof...
https://pubmed.ncbi.nlm.nih.gov/9106535Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.
D N Messina, M C Speer, M A Pericak-Vance...
https://pubmed.ncbi.nlm.nih.gov/9382102Myoferlin, a candidate gene and potential modifier of muscular dystrophy.
D B Davis, A J Delmonte, C T Ly...
https://pubmed.ncbi.nlm.nih.gov/10607832Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.
K J Nowak, P Walsh, R L Jacob...
https://pubmed.ncbi.nlm.nih.gov/10714584Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.
E M McNally, C T Ly, H Rosenmann...
https://pubmed.ncbi.nlm.nih.gov/10766988Mutations in the caveolin-3 gene: When are they pathogenic?
F de Paula, M Vainzof, A L Bernardino...
https://pubmed.ncbi.nlm.nih.gov/11251997Dysferlin protein analysis in limb-girdle muscular dystrophies.
M Vainzof, L V Anderson, E M McNally...
https://pubmed.ncbi.nlm.nih.gov/11665864