Family Conference 2018

We were delighted to have been joined by many adults and children affected by myotubular and centronuclear myopathies, their families, doctors and carers at our family conference. The conference was held on 14th and 15th July 2018 in London and was hosted jointly by the Myotubular Trust and ZNM – Zusammen Stark! (CNM – Together Strong!)

Conference programme:

I wanted to thank all of you who did all of this colossal wonderful work and all the efforts you are putting in for our cause. I think you are really amazing – all of you – who are working so hard to give us hope.”

(Feedback from one of our affected family members attending the 2018 Conference).

Saturday, July 14th:

Conference Programme:

The Conference, chaired by Professor Francesco Muntoni, was presented in both German and English. Scientific presentations included:

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.  Click here to see the presentation (PDF).
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. Click here to see the presentation (PDF).
Dr Ana Buj-Bello
Research Director at INSERM/Généthon, Evry, France

“Progress in gene therapy development for myotubular myopathy”
Click here to see presentation (PDF).


Dr Suyash Prasad
Chief Medical Officer, Audentes TherapeuticsSan Francisco, USA

“An update on the ASPIRO gene therapy programme for x-linked myotubular myopathy” 

Dr Suyash Prasad provided an overview of progress made in gene therapy development for myotubular myopathy, together with some frequently asked questions. Click here to see Audentes Therapeutics’ presentation (PDF).

Important: This presentation was made on 14th July 2018.  See Audentes website for the most recent data releases

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.    Click here to see the joint presentation (PDF).
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. Click here to see the presentation (PDF).
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. Click here to see the presentation (PDF).
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. Click here to see the presentation (PDF).

Saturday, July 14th:

Workshops Programme:

The workshops covered genetics and respiratory care, with many family questions being covered in these helpful presentations.

“Fundraising – a brainstorm” 
This session was an open forum for ideas, suggestions and recommendations for fundraising.
Presentations from ZNM Zusammen Stark! and Myotubular Trust

Dr Meriel McEntagart
Consultant Geneticist, St George’s Hospital, London, UK

“Inheritance patterns, recurrence risks and reproductive choices in centronuclear myopathies” 

Click here to see Dr Meriel McEntagart’s presentation (PDF).

Professor Anita Simonds
Consultant in Respiratory Medicine, Royal Brompton Hospital, London, UK

“Update on respiratory care: what’s new and what works” 

Click here to see Professor Anita Simond’s presentation (PDF).

Dr Michelle Chatwin
Consultant Physiotherapist in Respiratory Support, Royal Brompton Hospital, London, UK

“Respiratory management – your questions answered” 

Click here to see Dr Michelle Chatwin’s presentation (PDF).

Dr Debbie Field
Specialist Outreach Nurse, Complex Ventilation, Tracheostomy and Weaning, Royal Brompton Hospital, London, UK

“Tracheostomies – dispelling the myths: putting the person first” 

Click here to see Dr Debbie Field’s presentation (PDF).

Carolyn Turner
Family Support & Bereavement Counsellor, BACP, UK

“Support in times of bereavement” 

A group support session was available for our families who had sadly lost a child or relative. Carolyn Turner was able to signpost families to other services, and families were able to share experiences.

Sunday, July 15th:

Workshops Programme:

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

“DNM2 mutations – explanation, prognosis and therapies” 

Dr Johann Böhm provided information about DNM2 mutations – together with an explanation, prognosis and therapies. Click here to see the presentation (PDF). 

Dr Chris Freitag
Chief Medical Officer, Dynacure, Strasbourg, France

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

Dr Chris Freitag spoke about obtaining the broadest label possible for X Linked CNM patients and Autosomal Dominant CNM patients in the shortest time, while simultaneously minimising safety risk to patients. Click here to see the presentation (PDF).

Carolyn Turner Family Support & Bereavement Counsellor, BACP, UK

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

Carolyn Turner provided our families with helpful, practical advise and support tailored to their questions on a one-to-one basis.

Shaun Marsh /Zak Hughes
Adult patients from our UK community

“Independent living and holiday advice” 

Shaun and Zak shared their personal inspirational and helpful insights into living independently as adults – from exercise to arranging their care. Lots of laughter and joy was in the room. They were kindly joined by Sean, another adult, who also provided his experiences of going to university to study. The Cariazo family also kindly provided some tips around holidaying here (PDF).

Suzanne Brown 
RSCN, Children’s Hospice Southwest, Devon, UK

“Blended food – supporting parents and patients who choose a blended diet for gastrostomy tube feeding”

Suzanne Brown’s presentation was based on supporting parents and individuals who choose a blended diet 
for gastrostomy tube feeding – carefully covering the research, benefits, challenges and risks.  Click here to see the presentation (PDF).

Colin Plumb 
Rehabilitation Engineer and Director Tamar Rehabilitation Engineering Services Ltd

“Independent / Impartial Wheelchair & Special Seating Assessment and Advice”

Colin Plumb provided a rough guide to wheelchair services in the NHS together with some important information on postural management over a 24 hour period.  Click here to see the presentation (PDF).

Brian Dix, Kieran Franks, Jack O’Neill and Nathalie Delplace Fadhlaoui 
Wheelchair Football Associations Representatives from UK and Switzerland

“Goals beyond grass – an introduction to power chair football”  

Brian Dix talked about his role as CEO of a European Powerchair Football organisation, and a demonstration with the children at the conference which was enjoyed by all. Click here to download more information (PDF).

Children’s and Young People’s Workshops:

Plenty of activities were available to our VIP younger delegates to include toys, fun and games, face painting, balloons and magic, wildlife and animal encounter, cooking, arts and crafts, wheelchair football, karaoke and open mic, music, books, film, games, Playstation, African drumming and more!

The Children’s Workshop was managed by Alison Dyke, an experienced and qualified Nursery Owner and Manager, who is also RGA Nurse trained. Alison was accompanied by a great team of experienced carers including Rhianon, Sue, Sophie, Annie, Sam and Amanda.

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 Dickinson Charitable Trust and IGY Foundation

Daytrippers is a children’s charity which creates opportunities to explore, learn, develop and achieve. We believe every child has the right to a happy and thriving childhood.
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