Institute of Genetic Medicine

Newcastle Muscle Centre

Newcastle Muscle Centre

Overview

We are one of three in England for diagnosis and management of inherited muscle diseases.

The British Muscular Dystrophy Campaign support us.

The centre runs clinics in Newcastle and locations across the North of England.

Centre leaders

Professors Kate Bushby, Volker Straub and Hanns Lochmuller head the Centre. They hold joint appointments between Newcastle University and the NHS.

Their time splits between research and clinical commitments. Both activities focus on muscle disease.

Muscle Clinics

The muscle team runs children's and adult clinics for more than 1,000 patients. They are from the North of England and have a range of inherited neuromuscular diseases.

Locations

The main base for the children's clinic is Newcastle General Hospital. For adults, it's the International Centre for Life.

Children's clinics are also held at North Tees and Hartlepool and other regional locations. This is in conjunction with local physiotherapists and other local staff.

Adult clinics are also held in James Cook University Hospital and the Central Clinic, Carlisle.

Team

We try to ensure all clinics are multi-disciplinary and attended by members of the team. This includes our:

  • specialist physiotherapist Dr Michelle Eagle
  • specialist genetic nurses Louise Hastings and Chris Harling
  • physiotherapy technical instructor Michelle McCallum
  • a regional care advisor funded through the Muscular Dystrophy Campaign

We also have a programme of nurse-led clinics for myotonic dystrophy with cardiological backup.

Collaboration

The clinic has collaborative links with colleagues in:

  • cardiology
  • respiratory support
  • orthopaedics
  • neuropathology
  • other specialties

We welcome visiting doctors for specialised training in neuromuscular disease diagnosis and management.

National Commissioning Group

We have the possibility to offer appointments to people from all over the country. This is where we suspect diagnosis of limb-girdle muscular dystrophy (LGMD) in a patient.

Rare neuromuscular disorders

Newcastle leads the National Commissioning Group (NCG) for rare neuromuscular disorders. It handles the LGMD diagnostic and advisory service.

We can see people with a suspected diagnosis of LGMD or have muscle or DNA sent for analysis here. We need some clinical information about patients before accepting referrals.

More information

For further information about this service, please contact Susan Robinson at NCG.

Research

The Newcastle Muscle Centre undertakes research with a multi-disciplinary team.

As well as our clinics and limb-girdle service, we have an active role in research into the:

  • causes
  • management
  • treatment

of inherited muscle disorders. The neuromuscular research group is a multi-disciplinary team. It involves clinical-based as well as laboratory researchers.

Limb-girdle muscular dystrophies

We have a long-standing interest in the molecular genetics of limb-girdle muscular dystrophies.

We've helped in identification of some of the genes underlying these heterogeneous phenotypes.

The group is moving towards understanding the functions of these genes and proteins. It's looking at involvement in clinical trials.

Workshops

We have led workshops run by the European Neuromuscular Centre and Muscular Dystrophy Campaign.

These are on diagnostic and management issues in neuromuscular diseases. They lead to the generation of standards of care.

With the Institute of Neurology, London, we are part of the MRC Centre for Neuromuscular Diseases. For more information on our clinical research, contact Geoff Bell.

TREAT-NMD

Professors Bushby and Straub are the co-ordinators of an EU Network of Excellence, TREAT-NMD.

This brings together researchers from 21 partner centres to accelerate development of treatments. These are for rare inherited neuromuscular disorders.

Activities address the bottlenecks delaying the development of treatments from:

  • animal model assessment
  • patient registries
  • outcome measures for trials
  • standards of patient care

Projects & Trials

We're working on a wide variety of research projects and clinical trials within the Centre.

Basic research projects

  • The role of dysferlin in normal muscle and muscular dystrophy and testing of therapeutic targets (Dr Mark Hornsey and Yen Chui)
  • Understanding the collagen VI related muscular dystrophies (Debbie Hicks)
  • Dissecting cardiomyopathy in muscular dystrophies and therapeutic responses (collaboration with Dr Guy McGowan, Ralf Bauer)
  • Zebra fish models of muscular dystrophy and congenital myasthenia (Julaine Muller)
  • MRI to assess muscle damage in muscular dystrophies and response to therapuetic interventions (Penny Garood)
  • Biobanking and use of human myoblasts for therapeutic testing and therapy development (Hanns Lochmuller

Clinical trials

  • Antisense oligonucleotides in DMD (The MDEX consortium, PI Francesco Muntoni, Imperial College)
  • A systemic trial of PTC 124 in stop codon mediated DMD (PTC)
  • The UK heart protection study (PI John Bourke, Newcastle upon Tyne)
  • An international trial of steroid dosage in DMD (under consideration with NIH)