Family Conferences

Myotubular Trust’s European Family Conference 2014

Myotubular Trust’s third European family conference took place yesterday, on Saturday 12th July 2014 in London involving families and researchers from sixteen different countries.

The conference provided something for everyone affected by myotubular and centronuclear myopathy, and was a very uplifting day.

Affected Individuals, families and children were able to meet and exchange views, hear from the leading researchers in our field and to discover some of the latest ideas about how to manage the condition.

We are delighted to share with you some of the photos, presentations and extracts from the day which we hope you will find useful.

Anne Lennox

See some of our photos from the day

Scientific Presentations

Advances in experimental therapies for neuromuscular diseases

See Professor Muntoni’s abstract here (PDF)

In the last few years the neuromuscular field has seen a proliferation of experimental approaches to target specific forms of childhood neuromuscular diseases. The two conditions which lead the field are Duchenne muscular dystrophy and Spinal Muscular Atrophy, in which multiple therapeutic interventions are at different stages of development. These studies are exciting, and at the same time highlight the necessity to have detailed information on natural history of individual conditions and information on “what to measure and how” so to allow the investigators to capture changes induced by therapies.

Professor Francesco Muntoni
Head of the Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, and Great Ormond Street Hospital

Genetic basis of centronuclear myopathies

See Dr Böhm’s presentation here (PDF)

The genetic cause of MTM/CNM are not fully known and novel implicated genes remain to be identified. These genes will represent novel therapeutic targets. Moreover, identification of the genetic causes of MTM/CNM allows a better prognosis and is a prerequisite for genetic counseling and for inclusion in clinical trials. A presentation on recent work, funded by the Myotubular Trust, to identify new genes through high throughput gene sequencing.

Dr Johann Böhm
Pathophysiology of Neuromuscular Diseases, Department of Translational Medecine and Neurogenetics, I.G.B.M.C, France

Muscle excitation-contraction coupling and the cell ‘recycling’ process

See Dr Treves’ and Dr Jungbluth’s presentation here (PDF)

Impairment of muscle contraction due to defects in the calcium releasing machinery is a very promising line of investigation for centronuclear myopathy. Defects too in the system of cell recycling – getting rid of waste and reallocating vital resources – are being investigated, to try to explain some of the non-muscular complications in MTM/CNM.

Dr Susan Treves
Department of Biomedicine,
University Hospital Basel, Switzerland

Dr Heinz Jungbluth
Senior Lecturer and Consultant in Paediatric Neurology, Children’s Neuroscience Centre, St Thomas’ Hospital, London

Cross therapy approaches for myotubular and centronuclear myopathies

See Dr Laporte’s abstract here (PDF) 

The MTM1 and DNM2 genes are implicated in different forms of myotubular /centronuclear myopathies. We found that targeting DNM2 can rescue myotubular myopathy due to defects in MTM1 in an animal model of the disease. Further pre-clinical analyses aim to translate this strategy into a potential therapy.

Dr Jocelyn Franck Laporte
Head, Pathophysiology of Neuromuscular Diseases, Department of Translational Medecine and Neurogenetics, I.G.B.M.C, France

EU and US prospective natural history study of MTM1

See Charlotte Lilien’s presentation here (PDF)

Several therapeutic strategies for the treatment of myotubular myopathy are currently being investigated. Given the varying manifestations of this disease from one person to another, the objective of the X-Linked Myotubular Myopathy (MTM1) natural history study is to assess disease progression in a standardised way. This will make it possible to determine how the condition evolves more precisely and establish the optimal evaluation criteria for measuring the efficacy of future experimental therapeutic methods.

Charlotte Lilien
Physiotherapist, Neuromuscular Pathology Clinical Unit, Institute of Myology, France
‘Flying Physiotherapist’ for the MTM1 Natural History Study

Rebalancing PIPs: a new strategy for MTM treatment?

See Dr Dowling’s presentation here (PDF)

Myotubular Myopathy is a currently untreatable disorder that will likely require multiple approaches for successful cure. MTM1 is an enzyme that regulates PIPs, and its loss in MTM is associated with increased PIP levels. We have tested the novel approach of lowering PIP levels in MTM as a potential treatment strategy, and will report on our exciting results related to this.

James J Dowling
Clinician, Hospital for Sick Children, Toronto and Assistant Professor, Departments of Paediatrics and Molecular Genetics, University of Toronto

Gene therapy of myotubular myopathy: the road to a clinical trial

See Dr Anna Buj-Bello’s presentation here (PDF)

We have developed a gene replacement therapy for X-Linked Myotubular Myopathy and assessed efficacy of rAAV vectors in animal models. Further pre-clinical studies are currently performed to translate this approach to a clinical trial in patients.

Dr Anna Buj-Bello
Researcher, Genethon, France

Professor Martin K (Casey) Childers
University of Washington, Department of Rehabilitation Medicine

Scientific and Therapeutic Presentations

Knowing your gene

An updated overview on the genes implicated and genetics testing for MTM and CNM, including family planning advice.

Dr Meriel McEntegart
Consultant Clinical Geneticist, St. George’s Hospital, London

Developing medicines for rare, genetic diseases of childhood

See Dr Prasad’s presentation here (PDF)

The medicines development process, from developing an idea, to demonstrating proof of concept, to the running of clinical trials and approval by regulatory authorities. With an emphasis on understanding the process as it applies to children, and those with a severe genetic disease when there are no other treatments available. An update on the Audentes program for X-Linked Myotubular Myopathy will be included.

Audentes are initiating a series of focus groups of parents and patients affected by X-Linked Myotubular Myopathy. The first focus group will take place with a small number of parents in Europe the day before the Family Conference on 11th July, at the Holiday Inn.

Dr Suyash Prasad
Chief Medical Officer and Senior Vice President at Audentes Therapeutics

Update on respiratory care: ‘what’s new and what works’

See Professor Simond’s presentation here (PDF)

An overview of new ideas and developments in respiratory care, plus the latest on effective respiratory management, suitable for children and adults.

Professor Anita Simonds
Professor of Respiratory & Sleep Medicine, National Heart & Lung Institute and Respiratory Consultant at Royal Brompton & Harefield Hospital, London

Respiratory physiotherapy support and advice

Please email us to receive further information

A practical workshop informing you about new equipment and up to date techniques for airways clearance based on her publication Mechanical aids for secretion clearance. Chatwin et al (2009) From age 2 to adult.

Dr Michelle Chatwin
Clinical Specialist Physiotherapist at the Clinical and Academic Dept of Sleep and Breathing at the Royal Brompton Hospital, London

The first two years

Please email us to receive further information

Your baby’s whole development from the perspective of a Senior Physiotherapist.

Hilary Rattue
Senior Physiotherapist St George’s Healthcare NHS Trust, London

Lifestyle Presentations and Workshops

Realising a Dream

See Martin Plowman’s presentation here (PDF)

Martin Plowman is head of Dreams at National UK Charity ‘Dreams Come True’. The mission of the charity is to bring joy by making the dreams of children and young people come true. These dreams can be as wide as one’s imagination and range from a holiday, to meeting a favourite celebrity and everything in between! Martin will be discussing the charities work and experiences and how the charity can help make dreams a reality.

Martin Plowman
Head of Dreams, Dreams Come True (UK Charity)

Keeping healthy – mind, body and soul

See Shaun Marsh’s presentation here (PDF)

See Shaun’s Early Years Physio (You Tube)

Shaun Marsh is a professionally trained personal trainer who has myotubular myopathy. Shaun is keen to tell his positive story about how martial arts and exercise has helped him manage the condition, and also offer his help and advice around finding exercises to suit you. Shaun will bring some foam nunchukus and welcomes everyone to get involved!

Shaun Marsh
Personal Trainer

Help Desks

Open Help Desk : MDC Patient Advocacy Support.

Shirvani Handa of the Muscular Dystrophy Campaign is providing a help and information service for families and individuals who need it on a one-to-one basis. The advocacy team’s experience covers access in education and work; together with help and information on finances and benefits; as well as signposting to other helpful resources for people affected by neuromuscular conditions (from lunchtime).

Read more about MDC’s advocacy support here.

Shirvani Handa
Muscular Dystrophy Campaign

Joining A Patient Registry. We are able to provide a laptop and a quiet place for you to register your details on the Myotubular and Centronuclear Myopathy Patient Registry, with help at hand from the Myotubular Trust if needed. We can also advise about the other registries, or please visit the Registry website for more information.

Your feedback

The Children’s Workshop

The London 10K Run

A perfect Myotubular Trust Family Weekend was nicely rounded off with a wonderful 10K London Run. Thank you to all our runner and supporters! Please see the photos from the run here

2014 10K Run London

With thanks to our Sponsors