Lamin A/C Gene Mutation Clinical Trial
Official title:
The Deep Phenotype of Lamin A/C Cardiomyopathy - A Proof-of-principle Relax-omic Pipeline
This study seeks to discover clinically useful tests to improve the diagnosis of a rare and
serious heart muscle disease caused by mutations in a gene called 'Lamin'.
Patients born with lamin gene mutations have apparently healthy hearts initially, they begin
experiencing symptoms in their twenties or thirties, and by age 45 the majority have
undergone a heart transplant, experienced a major cardiac complication, or have died. Sudden
heart rhythm abnormalities are a major cause of sudden death so earlier diagnosis can save
lives by enabling timely treatment or implantation of specialised pacemakers
(defibrillators). In clinical practice, diagnosis of lamin heart disease currently relies on
the genetic test. Very little is known about the detailed imaging features of the hearts of
patients with lamin heart disease although advanced echocardiography and cardiac MRI now
offer the opportunity to study the health of the heart without the need for radiation.
- Research participants will undergo resting 12-lead ECG, 24-hour ambulatory ECG, baseline
echocardiography, exercise echocardiography, cardiac MRI scan.
- Blood samples will be collected in all participants from both centers for immediate
laboratory testing.
- Blood and urine samples will be collected in all participants and used for metabolomic,
proteomic and lipidomic profiling and for targeted metabolite and enzyme analysis.
- Blood samples will be collected in all participants for future gene code analysis (DNA /
RNA).
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| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT04904393 -
Subanalysis in Patients With CARDIoLAMinopathy Enrolled to REPORT-CCM Registry
|
||
| Terminated |
NCT03439514 -
A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
|
Phase 3 |