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A participant from Queen Mary University of London Genes & Health study is the 10th person enrolled in a gene-editing clinical trial for heart disease.

This is a major milestone for the Genes & Health study, which aims to improve health outcomes for people of Pakistani and Bangladeshi descent, who are often underrepresented in genomic studies.

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A South Asian participant in the Genes & Health study run by Queen Mary University of London and Barts Health NHS Trust was one of ten people globally to be enrolled in a phase 1 clinical trial, to evaluate VERVE-101, a single dose, once and done, gene-editing treatment designed to reduce high-cholesterol caused by familial hypercholesterolaemia (FH).  

The participants enrolled in the heart-1 phase 1b trial have a heterozygous form of familial hypercholesterolaemia (FH), a genetic condition that leads to very high low-density lipoprotein (LDL) cholesterol levels and, in turn, increases the risk of coronary artery heart disease. The participant involved in the trial was diagnosed with FH by Queen Mary’s Genes & Health, one of the world’s largest community-based genetics studies that aims to improve health outcomes of British South Asians and diversify genetic data. Through a collaborative effort, the patient was referred to Barts Health NHS Trust, who in conjunction with Richmond Pharmacology Ltd (the site where the patient was dosed and clinically managed), provided the opportunity for this patient to enrol in this ground-breaking trial. 

FH is one of the most common genetic conditions, affecting around 1 in 300 people globally. However, fewer than 10% of those affected worldwide will ever receive a diagnosis and most remain untreated. Without treatment, 50% of men will have a heart attack before they’re 50 and 30% of women by the age of 60.  

The Genes & Health participant who received VERVE-101 said: 

“Heart attacks run in my family, which is why I decided to participate in the heart-1 clinical trial...I was afraid that I would be next. That was my motivation for being one of the first in the world to try VERVE-101. While I was only treated a few weeks ago, I’m very optimistic that the medicine will work, and I won’t have to worry about having a heart attack.” 

Most studies that report on the prevalence for FH in the general population are from Europe, North America, East Asia and Australia; it is unclear how common this condition is in different parts of the world and in minority ethnic communities. Bangladeshi and Pakistani people are underrepresented in genetic research despite having some of the highest rates of heart disease, diabetes, and poor health in the UK. Genes & Health aims to change that.  

Professor David van Heel, Chief Investigator and Joint Lead of Genes & Health said: 

“We are very proud to have had a Genes & Health participant involved in this important clinical trial. These results also happen to coincide with the milestone of diagnosing, and initiating treatment, for our 50th Genes & Health volunteer with familial hypercholesterolemia. From the beginning of Genes & Health we wanted to do something about the very high rates of heart disease in our volunteer communities, and it is amazing to be able to do so.” 

Genomic testing for FH is one of the priorities of the NHS Genomic Medicine Service. Genes & Health, together with Barts Heart Centre, have developed a pathway for research participants to receive a FH diagnosis and get the right treatment, early. So far, 50 participants have been diagnosed with FH through Genes & Health, a significant achievement for the project.  

FH is caused by a single gene mutation that impairs the body’s ability to mediate LDL cholesterol, leading to higher disease-causing LDL-cholesterol in the bloodstream. Since the mutation only affects a single gene, it makes it a prime candidate for genome editing treatments. Verve Therapeutics have developed a single-dose gene editing medication which targets the affected gene PCSK9 in the liver to reduce LDL-cholesterol. 

The initial data from the heart-1 study is available here.

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