Networking & Collaborations

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The John Walton Muscular Dystrophy Research Centre team has a long tradition of working nationally and internationally to establish networks and collaborations with stakeholders from across the neuromuscular landscape.

Many of the networking team at the John Walton Muscular Dystrophy Research Centre work in collaborative projects. We have had great success in securing funding for such projects over the years and since 2007 have participated in a funded portfolio of projects totalling over £100 million putting us firmly at the centre of the neuromuscular and rare disease community.

We have active patient and public involvement programmes, which include interactions and close working relationships with NHS services as well as many different disease specific and umbrella patient organisations. The John Walton Muscular Dystrophy Research Centre is experienced in the set-up and coordination of neuromuscular patient registries. A number of these are run from the centre, collecting data on over 4500 neuromuscular patients.

The Network team was established in 2007 and developed in parallel to TREAT-NMD (FP6 funded network of excellence for neuromuscular diseases coordinated by Prof. Straub), which has now evolved into TREAT-NMD Alliance and TREAT-NMD Services Ltd. TREAT-NMD provided an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible and much of the expertise and work in the John Walton Muscular Dystrophy Network team has benefitted from the long-standing and ongoing mutually beneficial collaboration.

We have also established additional national networks to address key challenges in the UK, including DMD Hub, DMD Care UK, and Adult SMA Reach.

Skills & Expertise of the Network Team

Stakeholder Engagement

Working with Patients

Organising (Inter)national Events

Building Collaboration

Strategic Vision

Industry Collaboration

Communication

Registry Expertise

Delivery of Education

Gaining International Consensus

Project Management

Establishing Global Networks

Clinical & Research Networks

Adult SMA REACH (Research and Clinical Hub) is a data collection study aiming to gain a better understanding of the impact of standards of care and new treatments on the natural history of Spinal Muscular Atrophy (SMA). This study is sponsored by The Newcastle upon Tyne Hospitals NHS Foundation Trust. Adult SMA REACH is funded by Biogen and Roche.

Currently, there are three drug treatments available for SMA in the UK: Zolgensma, Nusinersen and Risdiplam. Zolgensma is the only approved drug – Nusinersen and Risdiplam are currently available as part of Managed Access Agreements (MAA). Further information about Managed Access can be found here.

The advances in drug development have highlighted an urgent need to establish stronger clinical networks and data collection to monitor and gain a better understanding of the impact of new drugs on the natural history of the disease.

Aleks Carver

SMA, FSHD & DM Registry Manager

Networking

Anisah Tariq

Adult SMA Reach Project Manager

Clinical Research

Chiara Marini Bettolo

Consultant Neurologist

Clinical Care
Clinical Research
Networking

Elena Karkkainen

Data Manager

Clinical Research

Grecia Benesperi

Project Assistant

Clinical Research

Becker muscular dystrophy (BMD) is a muscle-wasting condition, which affects males. It is a genetic disease caused by mutations in the dystrophin gene (or DMD gene) and clinically presents with progressive muscle weakness and wasting, leading to increasing and sometimes severe disability. It is closely related to Duchenne Muscular Dystrophy (DMD), also caused by mutations in the DMD gene, although is generally not as severe.

The clinical spectrum in BMD is broad, ranging from high creatine kinase (CK) levels with no muscle symptoms or only mild weakness to severe muscle involvement and potentially life-threatening health complications, as heart and breathing muscles weaken. Additionally, manifestations in BMD may encompass learning difficulties, psychiatric issues, and neurodevelopmental disorders, including conditions like autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).

Abby Scott

BMD Hub Project Manager

Networking

Jess Elliott

BMD Hub Project Assistant

Networking

Michela Guglieri

Professor of Neuromuscular Disorders

Clinical Research
Clinical Care
Networking

Pietro Riguzzi

Clinical Research Associate

Clinical Research

DMD Care UK is a nationwide initiative in collaboration with Duchenne UK to ensure every person living with Duchenne muscular dystrophy (DMD) in the UK has access to the best care, no matter where they live.

We're bringing together expert clinicians and the patient community to agree, communicate and implement DMD standards of care recommendations for the UK. These are based on the international recommendations published in The Lancet Neurology in 2018, but are more specific and adapted for the UK.

Adam Kerr

Project Coordinator for DMD Care UK

Networking

Cathy Turner

Senior Project Manager for DMD Care UK

Networking

Michela Guglieri

Professor of Neuromuscular Disorders

Clinical Research
Clinical Care
Networking

Volker Straub

Harold Macmillan Professor of Medicine

Basic Research
Clinical Care
Clinical Research
Networking

The DMD Hub is a partnership between Duchenne UK and the John Walton Muscular Dystrophy Research Centre at Newcastle University. The DMD Hub coordinates a network of trial sites with trained staff which are funded to carry out clinical trials for DMD.

The DMD Hub uses existing UK clinical trial expertise, to provide a central resource offering advice, guidance and training to sites less experienced in running DMD clinical trials.

The DMD Hub engages with key stakeholders at sites and in industry. We facilitate communications between them to accelerate trial readiness. This has already increased the number of UK sites which run DMD trials.

Emma Heslop

DMD Hub Manager

Networking

Jess Elliott

BMD Hub Project Assistant

Networking

Megan McNiff

Research Associate: Patient Preference

Networking

Michela Guglieri

Professor of Neuromuscular Disorders

Clinical Research
Clinical Care
Networking

Phil Cammish

DMD Hub Central Recruitment Manager

Networking

Volker Straub

Harold Macmillan Professor of Medicine

Basic Research
Clinical Care
Clinical Research
Networking

The LifeArc centre for Acceleration of Rare Disease Trials (ARDT)  is a collaboration between Newcastle University, Queen’s University Belfast, and the University of Birmingham, bringing together their expertise. Rare disease clinical trials face significant challenges from small research populations to complex disease mechanisms, which often delaying patient access to new treatments. The Centre is developing a UK-wide trial platform, including a rare disease trial recruitment portal, to streamline the design and delivery of trials in partnership with patients.

At this Centre, collaboration is at the heart of everything we do. By bringing together experts from multiple disciplines, we are breaking down barriers that traditionally slow down rare disease trials. This initiative aims to accelerate clinical trials, improve access to new therapies, and support faster NHS approvals.

Emma Heslop

DMD Hub Manager

Networking

Nagendra Aleri

Technical Project Manager

Networking

Phil Cammish

DMD Hub Central Recruitment Manager

Networking

Phil Hall

ARDT Project Manager

Networking

Vicki Hedley

Rare Disease Policy Manager

Networking

Volker Straub

Harold Macmillan Professor of Medicine

Basic Research
Clinical Care
Clinical Research
Networking
PaLaDIn project logo

PaLaDIn is an ambitious four-year Innovative Health Initiative (IHI) funded initiative that launched in January 2024. By developing a state of the art, FAIR by design, data collection platform “The Interactium”, PaLaDIn will drive innovative real world data collection from patients with rare neuromuscular diseases. PaLaDIn will maximise the utility, interoperability and reusability of the Interactium data so it can be widely used by researchers and industry, in clinical trial planning, drug development and understanding of disease.

Avril Palmeri

Data Officer

Networking

Becca Leary

PaLaDIn Senior Project Manager

Networking

Emma Heslop

DMD Hub Manager

Networking

John Dawson

Web Development & Communications Manager

Networking

Nagendra Aleri

Technical Project Manager

Networking

Phil Cammish

DMD Hub Central Recruitment Manager

Networking

Volker Straub

Harold Macmillan Professor of Medicine

Basic Research
Clinical Care
Clinical Research
Networking

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