Using epigenetic, transcriptional, metabolomic and proteomic approaches in cardiac and skeletal muscle tissue, we want to reveal distinct biological pathways affected in ACM, DCM and PLN r14del cardiomyopathy.
ID
Source
Brief title
Condition
- Cardiac disorders, signs and symptoms NEC
- Cardiac and vascular disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Define the biological pathways affected in several types of cardiomyopathies
using a **multi**-omics approach. We will furthermore define how cardiac PLN
expression correlates to skeletal muscle PLN expression to see whether PLN
expression in skeletal muscle can be used as a proxy for PLN expression in the
heart.
Secondary outcome
N/A
Background summary
The (epi)-genetic background is known to be an important risk factor for the
development of arrhythmogenic (ACM) and dilated cardiomyopathy (DCM).
Phospholamban (PLN) r14del cardiomyopathy is a heritable disease that bears
characteristics of both ACM and DCM and is the most frequently identified
genetic mutation in cardiomyopathy patients in the Netherlands.
Study objective
Using epigenetic, transcriptional, metabolomic and proteomic approaches in
cardiac and skeletal muscle tissue, we want to reveal distinct biological
pathways affected in ACM, DCM and PLN r14del cardiomyopathy.
Study design
Non-therapeutic study, exploring ACM, DCM and PLN r14del cardiomyopathy
patients.
Study burden and risks
Cardiac transplantation and LVAD implantation are major procedures, however the
collection of a cardiac tissue during this procedure will not add any
additional burden or risks to the patient, nor will it extend the procedure.
The burden or risks associated to the skeletal muscle biopsy collection are
minimal. Participants can experience some pressure or mild cramping, but can
resume their daily activities right away and participate in physical activity
after 48 hours. Risks include bruising, infection (<1%) and muscle or nerve
damage (<1%). This study will not provide a direct benefit to the patients, but
will prove beneficial to the research community with potential new insights in
ACM, DCM and PLN r14del cardiomyopathy pathogenesis. This study can ultimately
contribute to the development of treatment and disease prevention strategies
for these patients.
Antonius Deusinglaan 1
Groningen 9713 AV
NL
Antonius Deusinglaan 1
Groningen 9713 AV
NL
Listed location countries
Age
Inclusion criteria
• A minimum age of 18.
• Of adequate communication.
• Informed consent is obtained.
Exclusion criteria
• Known allergy for local anaesthetics.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL73976.042.20 |