Identifying disease specific pathways and modifiers in Phospholamban r14del cardiomyopathy

Recruiting

• Conditions: PLN heart disease; PLN r14del cardiomyopathy; 10010394; 10007510

• Registration Number: NL-OMON49612
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 90

Inclusion Criteria

• A minimum age of 18.
• Genetically confirmed r14del mutation in PLN.
• Of adequate communication.
• Informed consent is obtained.

Exclusion Criteria

• Aetiology of heart failure other than PLN r14del cardiomyopathy.
• Extensive skin disorder precluding a biopsy from unaffected skin area.
• Known allergy for local anaesthetics.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Differences between patients at different disease stages in terms of:<br /><br>- Phenotypic/functional differences in cardiomyocytes derived from iPSC<br /><br>- Circulating proteome<br /><br>- Circulating metabolome<br /><br>- Circulating cardiac biomarkers</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>n.v.t.</p><br>