RecruitingOBSERVATIONAL

Myotubular and Centronuclear Myopathy Patient Registry

The Myotubular and Centronuclear Myopathy Patient Registry is an international project managed by Newcastle University, working with charities and researchers. It's a secure online database where people with myotubular or centronuclear myopathy (or female carriers of the X-linked type) can share their health information. The goal is to help scientists better understand these conditions, speed up research into new treatments, and improve the care patients receive. By collecting this information, the registry can also help connect suitable patients with relevant clinical trials as they become available. Registering online is straightforward and helps advance knowledge for everyone affected by these conditions.

At a glance

Status

Recruiting

Sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Enrolment target

500

Start

26 Mar 2013

Estimated completion

01 May 2025

Myotubular Myopathy Myotubular Myopathy 1 Myotubular (Centronuclear) Myopathy Centronuclear Myopathy Centronuclear Myopathy, X-Linked X-linked Myotubular Myopathy

What is this study about?

This patient registry, called the MTM and CNN Registry, is an organised way to collect important health details from people who have myotubular or centronuclear myopathy. It's like a secure, online database, and it's managed by experts at Newcastle University in partnership with various charities and research groups who are dedicated to these conditions. The main aim is to create a central hub of information that can be used worldwide.

The information you provide, alongside details from your doctors, helps researchers in several ways. It allows them to understand more about how these conditions affect people, which can lead to new ideas for treatments. It also helps doctors get the latest advice on how to best care for patients, ensuring everyone receives high-quality treatment.

Crucially, this registry can help identify suitable patients who might be interested in taking part in future clinical trials for new medicines or therapies. By having this information readily available, it can speed up the process of finding participants for studies, which is vital for developing new treatments quicker.

Key takeaways

It's an online registry for myotubular and centronuclear myopathy.
Aims to improve understanding and treatment of these conditions.
Helps identify patients for future clinical trials.
Managed by experts at Newcastle University with charity support.
Only confirmed diagnoses or female carriers with symptoms can register.
Your data is kept confidential and secure.

Who may be eligible?

Anyone in the UK who has received a definite diagnosis of myotubular myopathy or centronuclear myopathy is welcome to join. This diagnosis needs to have been confirmed by a genetic test or a muscle biopsy.

If you are a female carrier of X-linked myotubular myopathy, and especially if you've experienced symptoms of the condition yourself, you are also encouraged to register.

Even if someone has sadly passed away, but their diagnosis of myotubular myopathy or centronuclear myopathy was confirmed, their information can still be included in the registry. There are no other listed reasons that would prevent someone from joining.

Quick self-check

Do you have a confirmed diagnosis of myotubular or centronuclear myopathy (by genetic test or muscle biopsy)?
Are you a female carrier of X-linked myotubular myopathy, especially if you have symptoms?
Was the person you are registering diagnosed with myotubular or centronuclear myopathy before passing away?
Are you able to provide details of your diagnosis?

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

What does participation involve?

If you choose to join this registry, you will register online through their website. You'll need to give your permission (consent) first. After that, you'll be asked to complete an online questionnaire about your health and your condition. You or your doctors will also be asked to provide details from your genetic test results or muscle biopsy reports. This is an ongoing registry, so there are no specific visits, medications, or set duration. You provide your information once and it helps contribute to ongoing research.

Potential risks and benefits

The registry offers several potential benefits, mainly contributing to a better understanding of myotubular and centronuclear myopathy, which can lead to improved care and the development of new treatments. It also helps connect eligible individuals with relevant clinical trials. There are no major physical risks involved, as participation is through providing information online. Your information is kept confidential and secure. You always have the right to withdraw your information from the registry at any time, without needing to give a reason.

Locations (1)

Newcastle University
Newcastle upon Tyne, United Kingdom· Recruiting

Common questions

What is a patient registry?

A patient registry is like a secure online database that collects health information from people with specific conditions to help doctors and researchers learn more and improve care.

Who manages this registry?

It's managed by the John Walton Muscular Dystrophy Research Centre at Newcastle University, working with charities like the Myotubular Trust and Muscular Dystrophy UK.

How does my information help?

By sharing your health details, you help researchers better understand myotubular and centronuclear myopathy, develop new treatments, and improve care standards for everyone.

Is my information kept private?

Yes, your information is kept confidential and secure. It's hosted on a specialised framework for rare disease registries.

Can I leave the registry if I change my mind?

Absolutely, you have the right to withdraw your information from the registry at any time.

How to find out more

Julie Bohill

julie.bohill@newcastle.ac.uk 0044 191 241 8640 Official trial record

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