RecruitingOBSERVATIONAL

Distribution of Cell-cell Junction Proteins in Arrhythmic Disorders

This study is investigating a new, simple way to identify individuals at risk of serious, inherited heart rhythm problems that can lead to sudden cardiac death. Doctors currently struggle to diagnose these conditions early, especially in people who haven't shown any symptoms yet. Researchers have found that cells from inside your cheek, obtained with a quick and painless swab, might hold clues similar to those found in heart tissue. By studying these cheek cells, scientists hope to develop a reliable way to spot these conditions sooner. This could help doctors protect more people from sudden cardiac death by allowing for earlier diagnosis and better management of their heart health.

At a glance

Status

Recruiting

Sponsor

St. George's Hospital, London

Enrolment target

Start

15 Oct 2017

Estimated completion

30 Jun 2027

Arrhythmogenic Right Ventricular Dysplasia Brugada Syndrome Cardiac Channelopathy

What is this study about?

Every week in the UK, about 12 seemingly healthy young people under 35 die suddenly due to heart conditions that often go undiagnosed. These tragic events are known as sudden cardiac deaths. Researchers know that many of these problems are caused by inherited conditions affecting how heart cells connect and work together. Finding these problems early is key to preventing sudden cardiac death.

Currently, diagnosing some of these conditions accurately often requires a heart biopsy, which is a surgical procedure that carries risks. It's also impossible to take a heart sample from someone who might have an inherited condition but isn't showing any symptoms yet. This study is exploring a much safer and simpler alternative: using cells from inside your cheek. Researchers have found that these cheek cells show similar changes to heart cells in people with certain inherited heart conditions. This discovery means a simple cheek swab could potentially act as an early warning sign, helping doctors identify those at risk.

The goal of this research is to use these cheek swabs to find people who might develop serious heart problems before they experience any symptoms. This new approach could greatly improve how doctors diagnose and manage these conditions, ultimately helping to save lives by allowing for earlier care and intervention.

Key takeaways

It's a study looking for early signs of serious inherited heart problems.
Uses a simple, painless cheek swab, not a heart biopsy.
Aims to identify people at risk of sudden cardiac death before symptoms appear.
Could lead to much earlier diagnosis and better management of heart conditions.
Participation is safe, takes seconds, and doesn't affect your current medical care.

Who may be eligible?

You might be able to take part in this study if you are over 18 years old and are regularly seen at the cardiology clinics at St. George's Hospital. This includes patients who have already been diagnosed with an inherited heart rhythm disorder, such as certain types of cardiomyopathy (like arrhythmogenic, hypertrophic, or dilated cardiomyopathy), or heart conditions like Long QT syndrome or Brugada syndrome.

Also, if you are a family member of someone who died suddenly due to a heart condition, or a family member of someone diagnosed with an inherited heart disorder, and you are being checked at St. George's Hospital, you might be able to join. This applies whether or not you currently have any heart symptoms. Even pregnant women can participate, as the cheek swab is completely safe. You'll need to be able to understand and speak English.

However, you won't be able to join if you are under 18, or if you have certain other heart conditions that are not inherited or do not affect your heart's rhythm, such as heart disease caused by poor blood flow or inflammatory heart conditions. You also need to be able to understand and agree to take part in the study.

Quick self-check

Are you 18 years old or older?
Are you a patient at the cardiology clinics at St. George's Hospital?
Have you been diagnosed with an inherited heart rhythm condition, or are you a family member being assessed for one?
Can you understand and speak English?
Are you able to agree to take part in the study?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part, you'll generally only need to provide one sample. This involves a quick and painless cheek swab, where a soft brush is gently rubbed inside your cheek and then smeared onto a slide. The whole process takes just a few seconds. In some cases, for example, if your condition changes or your medication alters, you might be asked to give another sample during one of your regular follow-up appointments. There are no other visits, specific assessments, or changes to your medication required for this study beyond what your doctor already advises.

Potential risks and benefits

This study is very safe, as the main step involves a simple, painless cheek swab with no known risks or discomfort. While you won't personally receive any direct health benefits from taking part, your contribution could be incredibly valuable. The results of this study have the potential to significantly improve the diagnosis and management of serious inherited heart conditions, ultimately helping to prevent sudden cardiac death for many others in the future. Remember, your participation is completely voluntary, and you have the right to withdraw from the study at any time without affecting your medical care.

Locations (1)

St George'S Hospital
London, United Kingdom· Recruiting

Common questions

What is a 'buccal smear'?

It's a simple, painless way to collect cells from inside your cheek using a soft brush, a bit like a gentle toothbrush, which is then wiped onto a slide.

Will this study change my medical treatment?

No, taking part in this study will not affect your current medical treatment or care in any way.

Is the cheek swab painful?

No, the cheek swab is completely painless and takes only a few seconds to perform.

Do I have to live near St. George's Hospital to participate?

Yes, this study is recruiting patients who are regularly seen at the cardiology clinics at St. George's Hospital.

What happens to my sample after it's collected?

Your sample will be analysed by researchers to look for specific patterns in proteins that might indicate an inherited heart condition.

How to find out more

Angeliki Asimaki

aasimaki@sgul.ac.uk 02087252817 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.