The deep phenotype of lamin A/C cardiomyopathy
Research type
Research Study
Full title
The deep phenotype of lamin A/C cardiomyopathy – A proof-of-principle relax-omic pipeline
IRAS ID
210790
Contact name
James C Moon
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
UCL data protection registration number, Z6364106/2016/10/69
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
This research project has been peer reviewed and awarded competitive funding by the National Institute of Health Research (NIHR) Rare Diseases Translational Research Collaboration (RD-TRC).
The aim is to discover a clinically useful test to improve the diagnosis of a rare degenerative heart muscle disease of poor prognosis that is caused by mutations in a gene called 'Lamin'.
The normal Lamin gene produces proteins that support the DNA machinery at the core of all heart muscle cells (the cell nucleus).
Patients born with these rare 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 in these young Lamin patients so earlier diagnosis can save lives by enabling timely treatment or defibrillator implantation.
To date very little is know about the detailed imaging features of patients with early and late Lamin heart muscle disease or how the imaging correlates with protein levels and other small molecules in the blood and urine of such patients.
By combining information from sophisticated protein analysis methods (mass-spectrometry) and cardiac imaging (especially cardiac MRI to study the health of the heart muscle tissue) we aim to develop the first imaging-proteomics test (biomarker) for the improved diagnosis of Lamin heart disease. We will test the ability of this biomarker to improve diagnosis of the condition and its ability to predict the outcome of patients at 2 and 5 years from the time of their enrollment into the study.
Results of this work have the potential to translate into a practical advancement for patient care by improving the way we diagnose and monitor patients with Lamin heart disease.REC name
London - City & East Research Ethics Committee
REC reference
17/LO/0167
Date of REC Opinion
10 Feb 2017
REC opinion
Favourable Opinion