Identifying disease specific pathways and modifiers in Phospholamban r14del cardiomyopathy

Identifying disease specific pathways and modifiers in Phospholamban r14del cardiomyopathy - DECIPHER-PLN part 1

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON49612

Enrollment

Registered

2020-09-10

Start date

2020-11-26

Completion date

Unknown

Last updated

2025-09-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

PLN heart disease PLN r14del cardiomyopathy

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria

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 outcomes

Primary

Measure	Time frame
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

Measure	Time frame
n.v.t.	—

Countries

Netherlands

Outcome results