Family Conference 2018

We are delighted to invite all those affected by myotubular and centronuclear myopathies, their families, doctors and carers to our family conference. As in 2016, the conference will be hosted jointly by the Myotubular Trust and ZNM – Zusammen Stark! (CNM – Together Strong!)

IMPORTANT: Please note discounted accommodation rate expires on 15th June.  See ‘Venue’ details below for further information.

Outline programme:


Friday, July 13th:

Informal get-together as and when people arrive.

Saturday, July 14th:

9.00-9.30am  ~  Registration and coffee

9.30am  ~  Opening and welcome by Myotubular Trust and ZNM Zusammen Stark!

Conference Programme:

The Conference, chaired by Professor Francesco Muntoni, will be presented in both German and English. Scientific presentations will include:

Professor Francesco Muntoni
Head of the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital, London, UK

“Overview of progress made, and lessons learnt in experimental therapies for other neuromuscular diseases”

In the last few years the neuromuscular field has seen a proliferation of experimental approaches for specific neuromuscular diseases. The two conditions leading the field are Spinal Muscular Atrophy and Duchenne muscular dystrophy, in which therapeutic interventions have gone all the way from experimental stages to drug approval, while many other approaches are in clinical trials. The outcome of some of these studies has been outstanding, while others have more modestly impacted on the progression of the disease. A new challenge that these developments have also brought to light relates to the cost of these products and their affordability given the current financial constraints. These are aspects that require wider public discussion so that effective therapies can also effectively become available to our patients.

Dr Johann Böhm
Department of Translational Medicine and Neurogenetics, IGBMC, France

“Genes, and the genetic background of centronuclear myopathy”

The DNA is a giant book of 6 billion characters that encode life. It is a construction plan for every living organism. Every newborn gets a copy of the DNA from the parents, and single copy errors occur in each generation. This is why we all look different. Sometimes, errors occur in essential DNA regions important for bone formation, immune activity, or muscle contraction, and these errors give rise to diseases. Finding these errors and understanding how they cause the disease is the first step towards the development of therapies.

Dr Ana Buj-Bello
Research Director at INSERM/Généthon, Evry, France

“Progress in gene therapy development for myotubular myopathy”

Professor Mathias Gautel
Chair of Molecular Cardiology, and Head of School of Basic and Medical Biosciences, King’s College, London, UK and
Professor Heinz Jungbluth
Consultant in Paediatric Neurology, Children’s Neuroscience Centre, St Thomas’ Hospital, London, UK

“RYR1 and TTN – the challenge of giant genes implicated in centronuclear myopathy”

The skeletal muscle ryanodine receptor (RYR1) gene and the giant Titin (TTN) gene play an important role in normal muscle function. Changes in RYR1 cause a wide range of early-onset muscle disorders including centronuclear myopathy (CNM), and a similar spectrum of neuromuscular disease is currently emerging in association with mutations in the giant TTN gene. This talk will summarise the role of RYR1 and TTN in skeletal and cardiac muscle, and highlight common features of RYR1- and TTN-related muscle disorders including CNM, approaches to their management and the current state of therapy development.

Dr Belinda Cowling
Head of Research, Dynacure, Strasbourg, France

“Cross therapy approaches for myotubular and centronuclear myopathies”

Our previous work indicates myotubularin, BIN1 and dynamin 2 work together in muscle, and regulation of these links is important for normal muscle function. We have shown that reducing dynamin 2 in different forms of centronuclear myopathies improves muscle function in mice. We are now developing a translated approach using antisense oligonucleotides to modulate dynamin 2 expression in centronuclear myopathies.

Dr James Dowling
Division of Neurology, Hospital for Sick Children, Toronto, and Associate Professor, Departments of Paediatrics and Molecular Genetics, University of Toronto, Canada

“Drug Repurposing for myotubular myopathy”

Myotubular Myopathy is a currently untreatable disorder that will likely require multiple approaches for successful cure. Using a combination of approaches, we have identified several potential complementary strategies for treating XLMTM. These strategies will be presented in terms of XLMTM and also discussed for their potential for other CNMs as well.

Dr Carsten Bönnemann
Senior Investigator, Neurogenetics Branch, Chief, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Health (NIH), Maryland, USA

“Study design and burden on families in clinical trials for ultra rare diseases”

Myotubular myopathy is entering an age of development of therapeutic and clinical trials. I will touch on two aspects relevant to the development of therapies for myotubular myopathy: One is the muscle weakness that may develop in carrier females of myotubular myopathy (MTM1) and why its proper recognition is relevant when we think about the developments of therapies. The other is to think through the special challenges of doing clinicalstudies and therapeutic trials in children affected early onset muscle conditions like myotubular myopathy.

13.00 – 14.30  ~  Lunch

14.30 – 18.00  ~  Afternoon sessions

Workshops Programme:

“An updated overview on the genes implicated, and genetic testing for myotubular and centronuclear myopathy, including reproductive advice” 
Dr Meriel McEntagart
Consultant Geneticist, St George’s Hospital, London, UK

“Update on respiratory care: what’s new and what works” 
Professor Anita Simonds
Consultant in Respiratory Medicine, Royal Brompton Hospital, London, UK

“Respiratory management – your questions answered” 
Dr Michelle Chatwin
Consultant Physiotherapist in Respiratory Support, Royal Brompton Hospital, London, UK

“Tracheostomies – dispelling the myths:putting the person first” 
Dr Debbie Field
Specialist Outreach Nurse, Complex Ventilation, Tracheostomy and Weaning, Royal Brompton Hospital, London, UK

“Fundraising – a brainstorm” 
Open forum
Your ideas, suggestions and recommendations greatly appreciated

“An update on the ASPIRO gene therapy programme for x-linked myotubular myopathy” 
Audentes Therapeutics
San Francisco, USA

“Support in times of bereavement” 
Carolyn Turner
Family Support & Bereavement Counsellor, BACP, UK

18.30 – 20.30  ~  Buffet dinner – all invited

Sunday, July 15th:

09.00 – 12.00  ~  Sunday sessions

Workshops Programme:

“Independent living” 
Shaun Marsh and Zak Hughes
Adult patients from our community, UK

Supporting parents and carers with the needs and experiences of sibling children” 
Carolyn Turner

Family Support & Bereavement Counsellor, BACP, UK

“Goals beyond grass – an introduction to power chair football” 
Wheelchair Football Associations Representatives from UK and Switzerland

“DNM2 mutations – explanation, prognosis and therapies” 
Dr Johann Böhm
Department of Translational Medicine and Neurogenetics, IGBMC, France

“Holidays and travel planning” 
Open forum
A family workshop to share ideas and experiences

“An update on the pre-clinical work on Dynamin 2 downregulation for myotubular and centronuclear myopathies” 
Strasbourg, France

“Blended food – supporting parents and patients who choose a blended diet for gastrostomy tube feeding” 
Suzanne Brown  RSCN, Children’s Hospice Southwest, Devon, UK

12.00pm    ~   Closing

Children’s and Young People’s Workshops:

This is very much a family event and you are welcome to reserve a place for your children in our under 16s workshop, being held in a room right next door to the conference.

The Children’s Workshop will be expertly organised and managed by Alison Dyke, an experienced and qualified Nursery Owner and Manager, who is also RGA Nurse trained. Alison will be accompanied by experienced childcare volunteers, and nurses.

The programmes will include toys, fun and games, balloons and magic, wildlife and animal encounter, cooking, art, karaoke and open mic, music,  books, films, games, x-box and PS4 multi gaming, gardening and more!

Registration for the Conference:

If you have any questions about registration please email


Holiday Inn, Bloomsbury Coram Street, London WC1N 1HT – this hotel is a few streets away from the world renowned Great Ormond Street Hospital for Children.

To avail of the discounted rate for the event, please use group code KUH. Rooms including breakfast cost £168 per night plus £10 supplement per person for multiple room occupancy. You can book online, through the central reservations on 0800 40 50 60 or in house reservations on 0207 923 6651. The cut off date for booking rooms is 15th June.

Here you can find details about other wheelchair accessible hotels that are within walking distance to the Conference.

There is an independently run car park available underneath the hotel.  Although it is not owned by the Holiday Inn there is a reduced rate of £13.50 per 24 hour period for Holiday Inn guests (£18 for non-guests). If you wish to reserve a space it is necessary to telephone the parking company directly on +44 (0)207 833 9956 giving them your car registration number. They speak English only so if you would like assistance to make this booking, please email or

The hotel is within the congestion charging zone and any car driving within this zone during the hours of 07:00-18:00hrs Monday to Friday will be charged £11.50 per day. Blue badge holders are exempt from the charge but it is necessary to register for this discount (this incurs a one-off £10 charge). Register here.

Other parking information can be found here if you have a blue badge.

If you are interested in attending the conference, but are concerned that for financial reasons you may not be able to join us, please contact us.


Attendance at the conference, including lunch and dinner, is free for those affected by myotubular and centronuclear myopathy, their families and carers. However, you will be responsible for your own accommodation costs.

Other guests are welcome to attend the conference for the net cost of £100 per person per day including lunch, dinner and coffee breaks. Accommodation is at your own expense.

Between now and the conference, the organising team will be working hard at fundraising to pay for this event. If you can help in any way or have any ideas, we would be immensely grateful and would love to hear from you.

Conference Languages:

As mentioned above, the family conference will be simultaneously translated from English to German and vice versa. If you do not speak English or German, but would still like to attend the conference, please contact Jennifer Bilbao –

Sunday 15th July 2018 : Fundraising Option

The Virgin Sport Westminster London 10K

An alternative for Sunday morning and an opportunity do some fundraising. Why not join the iconic London 10K run?

Many of our community have taken part in this popular run over the years, along with friends and family. It’s a fantastic event. Please let us know if you register so that we can send you a Myotubular Trust t-shirt.

Thank you

Thank you to all those sponsors, grant making Trusts and Foundations, and equipment manufacturers who have helped finance this conference.

Kindness for Kids was founded in 2003 with the goal to improve the situation of children with rare diseases. Kindness for Kids’ approach is two-fold: at a social as well as at a scientific level. Socially, the foundation organizes and funds holiday camps with medical assistance for affected children and vacations assisted by therapists for the whole family. Scientifically, the foundation commits itself in the research funding field with a focus on health care.

The Boshier-Hinton Foundation exists to improve quality of life for people with disabilities, learning difficulties or sensory impairement and their families, by the awarding of grants.

Breas provide innovative solutions that enable people with chronic respiratory conditions to live life to the fullest.


Our thanks also to Cynthia Dickenson Charitable Trust.


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