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EpiSign International: Expanding Epigenomic Testing in Rare Disease

This research study, called EpiSign International, aims to improve how we diagnose rare diseases. Many people with suspected rare conditions wait a long time for a diagnosis, which can be very stressful. This study is testing a new technology called EpiSign that looks at special patterns on your DNA, alongside existing methods, to see if it can help find answers more quickly. If you've had genetic tests but still don't have a clear diagnosis for a suspected rare disease, you might be able to take part. Taking part would involve providing a blood sample. The study is happening at Manchester University NHS Foundation Trust.

At a glance

Status

Not yet recruiting

Sponsor

University of Manchester

Enrolment target

192

Start

01 Oct 2026

Estimated completion

31 Dec 2029

Rare Disease Undiagnosed Disease Genetic Diseases, Inborn Congenital Abnormalities

What is this study about?

Many people in the UK and worldwide live with rare diseases. These are conditions that affect a small number of people and can be serious and long-lasting. Often, it takes a very long time for someone with a rare disease to get a proper diagnosis – sometimes many years. This long wait, known as a 'diagnostic odyssey', can be very difficult for patients and their families. It can delay getting the right care and support.

This study, called EpiSign International, is looking for better ways to speed up this diagnostic journey. Researchers are testing a new approach that uses a special blood test to look at your DNA. They're particularly interested in 'DNA methylation patterns', which are like tiny chemical tags on your DNA that can give clues about certain diseases. This new EpiSign technology is being combined with existing methods that look for missing or extra pieces of DNA (called 'CNVs') which are already known to cause some rare conditions.

The main goal is to see if this new EpiSign technology, either by itself or combined with existing DNA tests, can help doctors diagnose rare diseases more accurately and quickly for people who haven't yet found an answer. If successful, this could mean faster diagnoses, better treatment plans, and improved quality of life for many patients and their families in the future.

Key takeaways

This study explores a new method (EpiSign) to diagnose rare diseases faster.
It aims to help people who are still seeking a diagnosis after initial genetic tests.
Participation involves providing a single blood sample.
The study takes place at Manchester University NHS Foundation Trust.
It could potentially lead to a diagnosis for your or your child's condition.
You can withdraw from the study at any time without affecting your care.

Who may be eligible?

To be considered for this study, you would typically be an adult or child who is suspected of having a rare disease. You would have already had some standard genetic tests at Manchester University NHS Foundation Trust, but these tests wouldn't have given you a clear answer or diagnosis for your condition.

Essentially, the study is looking for people who are still on their diagnostic journey for a suspected rare disease, even after initial genetic testing. If your doctor has already found a clear genetic explanation for your condition, or if you have certain types of autism or learning difficulties without other features of a rare condition, then this study might not be suitable for you.

The study is open to both males and females of all ages. If you are already known to have a 'CNV' (a missing or extra piece of DNA) but doctors are unsure if it's causing your problems, you might also be a good fit for one part of the study.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do you or your child have a suspected rare disease?
Have you already had standard genetic tests that didn't give a clear diagnosis?
Are you currently receiving care at Manchester University NHS Foundation Trust?
Are you willing to provide a blood sample?
Do you not have an existing clear genetic diagnosis for your condition?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, the main thing you would need to do is provide a blood sample. This sample would be used to perform the special DNA tests, including the new EpiSign analysis, to look for clues about your condition. You wouldn't need to take any medication specifically for this study or have extra hospital visits beyond what you would normally have for your medical care.

The researchers will use your blood sample to analyse your DNA. This analysis will involve looking at DNA methylation patterns and checking for any missing or extra pieces of DNA (CNVs). The study is expected to run for about two years in total. During this time, the researchers will be processing and analysing samples, and working towards finding answers for participants. You won't have to do anything else once you've given your blood sample.

Potential risks and benefits

The main benefit of taking part is that the study might help you or your child get a diagnosis for a suspected rare disease, potentially ending a long and stressful diagnostic journey. While this isn't guaranteed, the information gained could be valuable for your doctors. The main risk involved is the discomfort of a blood test, which is a routine procedure. There are no known physical risks from the DNA analysis itself. You are free to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (1)

Manchester Centre for Genomic Medicine, 6th Floor, St Mary's Hospital, Oxford Road
Verified postcode
Manchester, United Kingdom

Common questions

What is a 'rare disease'?

A rare disease is a condition that affects a very small number of people, specifically fewer than 1 in 2,000. They can be serious and long-lasting.

What is EpiSign?

EpiSign is a new technology that looks at special chemical tags on your DNA, called 'methylation patterns', to help identify rare diseases.

Will I get a diagnosis if I join?

The study aims to help find a diagnosis, but it cannot guarantee one. The results will be shared with your doctors to help with your care.

Do I have to take new medicine?

No, this study does not involve taking any new medications. You would only be providing a blood sample for testing.

How long does the study last for me?

Once you've given your blood sample, your part in the study is complete. The overall study will run for about two years for the researchers.

How to find out more

James C McConnell, PhD

james.mcconnell@mft.nhs.uk +441612765403 Official trial record

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