Induced pluripotent stem cell-derived 3D models to unravel the phenotypic diversity of arrhythmogenic cardiomyopathy
Recruiting
- Conditions
- ACMArrhythmogenic cardiomyopathy10019280
- Registration Number
- NL-OMON50374
- Lead Sponsor
- niversitair Medisch Centrum Groningen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 16
Inclusion Criteria
• A minimum age of 18.
• Clinically diagnosed with ACM.
• Genetically confirmed mutation in one of the ACM associated genes.
• Of adequate communication.
• Informed consent is obtained.
Exclusion Criteria
• Other aetiology of heart failure other than ACM.
• A primary non-pathogenic mutation in one of the ACM associated genes
• A secondary mutation in another ACM associated gene.
• Extensive skin disorder precluding a biopsy from unaffected skin area.
• Known allergy for local anasthetics.
• Informed consent can, for whatever reason, not be obtained.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Compare the typical ACM phenotype in patient derived iPSC-cardiac tissues to<br /><br>the phenotype of genetically altered standard human embryonic stem cell line<br /><br>(commercially available) H9-derived cardiac tissues, under several<br /><br>environmental situations. The constant factor between the two parameters is an<br /><br>identical mutation in an ACM associated gene. The variable factor compromises<br /><br>an entirely different genomic machinery. The control group will consist of<br /><br>genetically unaltered H9-derived cardiac tissues and genetically repaired<br /><br>patient-derived iPSC-cardiac tissues. After exposure to environmental factors,<br /><br>tissues will be examined for typical ACM associated characteristics.<br /><br>Immunohistochemistry will be performed to map the integrity of the desmosome as<br /><br>well as other potential proteins. </p><br>
- Secondary Outcome Measures
Name Time Method <p>not applicable</p><br>