Not yet recruitingOBSERVATIONAL

The Prevalence of RYR1-related Disease

This study is looking into how common health conditions related to a gene called RYR1 are. The RYR1 gene is important for how our muscles work. Problems with this gene can cause many different health issues, from muscle weakness present at birth (called congenital myopathies) to a dangerous reaction to anaesthetic drugs called Malignant Hyperthermia. Even though these RYR1-related conditions are thought to be common, we don't currently know exactly how many people have them. This study, involving experts in the UK and Netherlands, will use existing health records to count the number of affected individuals. The goal is to provide crucial information to better help patients, allocate resources wisely, and prepare for future research that could lead to new treatments.

At a glance

Status

Not yet recruiting

Sponsor

King's College London

Enrolment target

2,000

Start

01 Feb 2025

Estimated completion

01 Sep 2026

Neuromuscular Disease Malignant Hyperthermia Congenital Myopathy Multiminicore Disease Nemaline Myopathy Centronuclear Myopathy Central Core Disease Congenital Fiber Type Disproportion

What is this study about?

Imagine your muscles as very tiny engines that need a special signal to work properly. The RYR1 gene is like a key part of that signal system, specifically helping to control calcium, which is essential for muscle movement. If there's a change or 'mutation' in this RYR1 gene, it can lead to a variety of health problems.

These problems can range from conditions where muscles are weak from birth, known as 'congenital myopathies' – for example, Multiminicore Disease or Nemaline Myopathy – to a very serious and sometimes life-threatening reaction to certain anaesthetics called Malignant Hyperthermia. People with Malignant Hyperthermia might otherwise be perfectly healthy. Currently, it's not clear how many people in the UK and other countries are affected by these RYR1-related conditions, or how often each specific type occurs. This study aims to fill that gap in our knowledge.

Knowing how common these conditions are is really important. It helps healthcare providers understand how many people need support, ensures that enough resources are available, and paves the way for new research and potential treatments. This study is a joint effort between experts in the UK and the Netherlands. They will look at existing national health databases to gather information on people who have been diagnosed with an RYR1-related condition, helping us to get a clearer picture of their prevalence.

Key takeaways

The study investigates how common RYR1 gene-related conditions are in the UK and Netherlands.
RYR1 problems can cause muscle weakness or a severe reaction to anaesthesia.
Knowing the numbers will help improve patient care and support future research.
The study uses existing, anonymous health records, so no direct patient involvement is needed.
It is a collaboration between expert centres in the UK and Netherlands.

Who may be eligible?

This study is focused on understanding how common RYR1-related conditions are. To be included in the study, a person must have a definitely identified change (mutation) in their RYR1 gene that is known to cause disease. They also need to have clear signs of a recognised RYR1-related condition, such as a congenital myopathy (a muscle weakness present from birth), Malignant Hyperthermia, or other related health issues. Additionally, they must have been seen by a specialist doctor at one of the national expert centres for these conditions.

To give some examples, if someone has a congenital myopathy, they would need to have symptoms that suggest this condition and evidence from a muscle biopsy, or have a family member with similar symptoms and the same RYR1 gene change. For Malignant Hyperthermia, they would need to have experienced symptoms that strongly suggest it, or have a specific test result that confirms it, or have a family history with the same gene change.

People would not be included if their diagnosis of a congenital myopathy or Malignant Hyperthermia is not supported by these kinds of definitive tests or specialist reviews. Also, only people living in the UK or the Netherlands are part of this specific 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 have a confirmed RYR1 gene change (mutation)?
Do you have a diagnosed RYR1-related condition, like muscle weakness since birth or Malignant Hyperthermia?
Have you been seen by a specialist at an expert centre for these conditions?
Do you live in the UK or the Netherlands?

Answer every question to see your result.

What does participation involve?

This study doesn't involve any direct participation from individuals, so you won't need to visit a clinic, take any medication, or have any follow-up appointments. The researchers will be looking at existing, anonymous information from national health databases and registries in the UK and the Netherlands. This means your personal information will not be shared; the study only looks at general numbers and types of conditions. Therefore, there is no direct involvement for patients in this study.

Potential risks and benefits

Since this study only uses anonymous, pre-existing health information, there are no direct risks to individuals. You won't have to change anything about your routine or undergo any procedures. The main benefit of this study is for the wider community affected by RYR1-related conditions. By providing clearer numbers on how common these conditions are, the study will help improve patient care, make sure resources are allocated where they're most needed, and speed up the development of new treatments through future research. Because there's no direct patient involvement, the concept of withdrawing from the study doesn't apply to individuals.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

King's College London
Verified postcode
London, United Kingdom

Common questions

What is the RYR1 gene?

The RYR1 gene gives instructions for making a protein that helps control calcium in your muscles, which is vital for them to contract and move properly.

What kind of health problems are linked to RYR1?

Problems with the RYR1 gene can cause muscle weakness from birth (congenital myopathies) or a serious reaction to certain anaesthetics called Malignant Hyperthermia.

Why is this study important?

This study will help us understand how common RYR1-related conditions are, which is important for improving patient care, allocating resources, and developing new treatments.

Who is included in this study?

This study includes people in the UK and Netherlands with a confirmed RYR1 gene change and a related health condition, whose information is already in national health databases.

Do I need to do anything to take part?

No, you don't need to do anything. The study uses existing, anonymous health data, so there's no direct patient involvement or actions required from you.

How to find out more

Heinz Jungbluth, MD PhD MRCP MRCPCH

heinz.jungbluth@gstt.nhs.uk +44 20 71883998 Official trial record

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