Patient Registries – a collaborative approach

The John Walton Muscular Dystrophy Research Centre and MDUK Funded Patient Registries – a collaborative approach

Who we are:

Neuromuscular diseases (NMD) are a group of rare genetic conditions that typically cause gradual weakening of the muscles, leading to an increasing level of disability. Some types of NMD can impact the heart or muscles used in breathing, at which point the condition can become life-threatening. 

Our team of over 70 people based at Newcastle University and Newcastle Hospitals NHS Foundation Trust work together towards the development and application of new treatments to improve the health outcomes of people living with neuromuscular conditions.

A key part of the work done by the centre is the set-up and coordination of several patient registries for neuromuscular conditions, supported by Muscular Dystrophy UK (MDUK):

• UK FSHD Patient Registry
• UK Myotonic Dystrophy Patient Registry
• Myotubular and Centronuclear Myopathy Patient Registry
• Global Registry for COL6-related Dystrophies

Patient Registries in collaboration with MDUK

The aim of these registries is to support and accelerate research into rare inherited neuromuscular conditions. Patients sign up online to answer questions about their health, quality of life etc., and provide consent for their clinical and genetic information to be collected and made easily available, anonymously, for researchers. Patients are at the centre of the research process, and we endeavour to keep registered patients informed of any research updates through regular newsletters. In addition to the research implications, registries can also be used to help provide important information to improve care standards.

As well as providing key funding for these registries, MDUK is directly involved through representation on the registries’ steering committees. These steering committees comprise a mixture of clinical and research expertise, as well as representation from patients and patient organisations. 

They are responsible for:

• Reviewing and voting on requests to use anonymised registry data (called ‘enquiries’)
• Advising on strategic direction, opportunities, and priorities for the registry
• Providing guidance on publications, posters or presentations using registry data
• Promoting the registries to their patient communities, professional networks and industry contacts.

The MDUK steering committee members can provide the registry with a unique perspective, and provide important context when considering the patient perspective of the work these registries do. 

Registry Highlights

Patient representatives are working closely with the UK FSHD Patient Registry’s steering committee to review and advise on updating the current dataset, to help streamline the process for new registrations and ensure the most relevant data is collected. The UK Myotonic Dystrophy Patient Registry is also engaging with patient organisations to identify barriers to registry participation and increasing patient engagement.

A new development proves that as well as collecting its own longitudinal data, the Myotubular and Centronuclear Myopathy Patient Registry can serve as a vital data collection tool for standalone research studies. The registry is partnering with Canadian researchers from The Hospital for Sick Children (SickKids) in Toronto and Montreal Children’s Hospital to provide recruitment support and data collection services for a myotubular myopathy (MTM) Brain MRI Study. This study will use neuroimaging to look at people with X-linked MTM and see how often there are differences in the brain images compared to people without the condition..