Our main objective is to identify disease modifiers in PLN r14del cardiomyopathy by studying patients are different ends of the PLN r14del cardiomyopathy disease spectrum with respect to differences in the circulating proteome and metabolome and in…
ID
Source
Brief title
Condition
- Congenital cardiac disorders
- Cardiac and vascular disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Differences between patients at different disease stages in terms of:
- Phenotypic/functional differences in cardiomyocytes derived from iPSC
- Circulating proteome at baseline and follow-up
- Circulating metabolome at baseline and follow-up
- Circulating cardiac biomarkers at baseline and follow-up
Secondary outcome
n.v.t.
Background summary
The r14del mutation of the Phospholamban (PLN) gene can result in a
cardiomyopathy and is the most frequently found genetic mutation in patients
with a cardiomyopathy in the Netherlands. Until date, over 1150 carriers have
been identified, with the majority being resident in the Northern parts of the
Netherlands. Subjects with a heterozygous PLN r14del mutation show a wide
variety in phenotype. The majority of patients present with arrhythmias around
their 40*s to 50*s or subtle ECG changes, but large differences are seen.
Within the same family, patients can present either with sudden death or overt
heart failure in their 20*s requiring a heart transplant or remain completely
asymptomatic until their 70*s. So far, no modifiers (genetic or environmental)
have been identified.
Study objective
Our main objective is to identify disease modifiers in PLN r14del
cardiomyopathy by studying patients are different ends of the PLN r14del
cardiomyopathy disease spectrum with respect to differences in the circulating
proteome and metabolome and in cardiomyocytes derived from induced pluripotent
stem cells (iPSC-CM)
Study design
Non-therapeutic study, exploring PLN r14del cardiomyopathy patients, two visit
research.
Study burden and risks
The burden and risk associated with this study is minimal and may only include
complications of the skin punch biopsy and venipuncture. It will not provide a
direct benefit to the patients, but may prove beneficial to both the research
and the patient community with potential new insights in PLN r14del
cardiomyopathy pathogenesis and new treatment approaches.
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.
• 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.
Design
Recruitment
Medical products/devices used
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 | NL73975.042.20 |