With iPS-CM we want to elucidate the effect of mutations on cellular and molecular level. With this knowledge it will be possible to understand the mechanism underlying heterogeneity in various arrhythmia syndromes, which will open the door for…
ID
Source
Brief title
Condition
- Cardiac arrhythmias
- Cardiac and vascular disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
: Cellular, molecular and electrophysiological characterization of the
iPS-CM.
Secondary outcome
n.v.t.
Background summary
Inherited arrhythmias are a known cause of sudden cardiac death and are
responsible for significant mortality and morbidity in developed nations. In
recent years, the discovery of pathogenic mutations in inherited arrhythmia
syndromes has provided novel insights for the understanding and treatment of
diseases predisposing to sudden cardiac death. Nevertheless there are still a
lot of questions to answer. The current models used are not competent to answer
all the questions, as they are not capable to accurately show the molecular
cardiac specific phenotype of the mutation. Recently it became possible to
reprogram somatic cells to an embryonic like state, induced pluripotent stem
cells (iPS). The techniques to differentiated stem cells to cardiac myocytes
was already available. Now it is possible to create patient- and therefore
mutation-specific human cardiac myocytes to study inherited arrhythmias
Study objective
With iPS-CM we want to elucidate the effect of mutations on cellular and
molecular level. With this knowledge it will be possible to understand the
mechanism underlying heterogeneity in various arrhythmia syndromes, which will
open the door for developing specific therapies.
Study design
We want to create a BioDataBank with HDF. When possible the HDF will be
collected from patients during surgery for routine clinical indications. When
no surgery is planned a Stansbiopsy of skin will be performed. These HDF cells
are used to create iPS-CM.
Study burden and risks
When possible skin biopsies at the incision site will be collected from
patients at the time of surgery routine clinical indications. This should pose
no additional risk to the patient. When no surgery is planned a Stansbiopsy of
skin will be performed, this causes in practice no significant pain nor
scarring, no suturing is needed. There is no personal benefit to participate in
this study.
AMC, Meibergdreef 9
1105 AZ Amsterdam
NL
AMC, Meibergdreef 9
1105 AZ Amsterdam
NL
Listed location countries
Age
Inclusion criteria
Adult patients diagnosed with inherited arrhythmias.
Exclusion criteria
The inclusion criteria includes only the study population. Since there is minimal burden on patients, there is no reason why someone in this group can not participate in this study.
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 | NL30225.018.09 |