The Largest Ever Study of DCM

14th November 2018

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Stuart Cook, a Professor of Clinical and Molecular Cardiology at Imperial College London, is leading a £2 million study of dilated cardiomyopathy.

Dilated cardiomyopathy affects up to one in 250 people in the UK and remains the primary condition for heart transplantation, despite the use of medications and advanced device therapies.

Over the past six years, Professor Stuart Cook and Dr James Ware have worked with a large international team funded by a $6,000,000 grant from the Fondation Leducq and grants from the BHF and Wellcome Trust, to better understand the way that changes in DNA - sometimes referred to as genetic variants or mutations - can predispose somebody to develop DCM. These genetic variations can run in families, with the child of an affected parent typically having a 50/50 chance of inheriting the gene defect.

What has become clear during these studies is that a genetic defect alone is often not sufficient to cause DCM, especially if the defect is in the titin gene.

This gene makes the biggest protein in the human body, found in all muscle cells, and variation in titin is the commonest genetic cause of DCM - affecting up to one in five people with DCM.

Working with cardiology colleagues at six hospital Trusts across the UK, the team will invite patients with DCM to take part in a study that combines cutting-edge heart imaging with DNA sequencing to better understand this complex disease.

Patients agreeing to take part in the study will undergo blood testing, DNA sequencing and cardiac MRI scanning of the heart with regular follow-up to see how they are getting on.

The overall goal is to recruit at least 2,000 patients with DCM. This is a big target. To help achieve this ambitious goal, Dr Ware is exploring new ways to help reach as many patients as possible using new technologies, like social media, phone apps, and a direct-to-patient approach.

Their vision is that all patients, no matter where they live, or which hospital they attend, should have the opportunity to participate in research if they choose to.

This is a new and exciting way for patients to be involved in research programmes, but comes with challenges too, which are currently being worked out.

Ultimately, the team hopes to better understand how DNA mutations lead to DCM, to find new treatments, and to develop refined approaches to inform individuals with mutations what they can do to best manage their condition: what to do, what to avoid and what to expect.

The team are also working with scientists, who will test the effects of various mutations in the laboratory and try to work out new ways of preventing heart failure and cardiac arrhythmias in DCM.