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Newsletter for the centronuclear and myotubular myopathy community

Issue 1/2019

 

Dynacure logo.


Dynacure: clinical trial application approved and research grant funding 

Clinical trial application (CTA) for DYN101 - Dynacure's antisense product in development for centronuclear myopathy has been approved and research funding to help speed up current development plans has been received.

Read more: Dynacure

 

Audentes logo.

Audentes: new positive data from ASPIRO, the Phase 1/2 Clinical Trial of AT132 for X-linked Myotubular Myopathy 

New data has been released including more positive feedback about the AT132 gene therapy trial programme (ASPIRO), for patients with x-linked myotubular myopathy (MTM1) aged up to five years.

Read more: Audentes

Dr Alfred J Spiro.

Dr Alfred J Spiro, 1930 - 2019

In 1966 Dr Alfred J Spiro published the first paper on myotubular myopathy in the Archives of Neurology. A distinguished neurologist, he died on 17 April 2019.

Read more: Dr Alfred J Spiro

Patient registry logo.

Patient Registry

The Myotubular and Centronuclear Myopathy Patient Registry collects clinical and genetic information from individuals living with myotubular myopathy or centronuclear myopathy, to provide an aid to clinical study recruitment and an invaluable resource to the research community.  Lindsay Murphy provides an update.

Read more: Patient Registry

 

Professor Laurent Servais.

Professor Laurent Servais

Professor Laurent Servais has recently been appointed Professor of Paediatric Neuromuscular Diseases at MDUK Oxford Neuromuscular Centre.

Read more: Professor Laurent Servais

Myotubular Trust fundraisers

Myotubular Trust fundraising events

Places are available in several Myotubular Trust fundraising events this year. Learn how you can get involved and about the research that is funded.

Read more: Myotubular Trust fundraising events

Parent and child at US Family Conference.

US MTM-CNM Family Conference

The sixth US MTM-CNM Family Conference will take place in St Louis, Missouri later this year, marking 10 years since the first biennial conference was held.

Read more: US MTM-CNM Family Conference

Parent and child.

German Family Conference

The annual family conference of the German Association CNM – Together Strong for families with myotubular myopathy and other centronuclear myopathies took place from 10 -12 May 2019 in Hohenroda.

Read more: German Family Conference

Yellow sunflower.

The Big Sunflower Project

2019 is the ninth year of The Big Sunflower Project. Over 300 packets of seeds have been sent across the UK and to Europe to raise awareness of centronuclear and myotubular myopathy. 

Read more:
The Big Sunflower Project

Jocelyn Laporte team.

Meet the researcher: Valentina Lionella

Valentina Lionello is a Postdoc researcher at Institut de génétique et de biologie moléculaire et cellulaire (IGBMC), in Strasbourg. The Information Point spoke to her about her work and her recent study  ‘A new therapeutic strategy for centronuclear myopathy’.

Read more:
Meet the researcher

The Ward family.

Strong Will

Earlier this year, Will Ward who is diagnosed with myotubular myopathy celebrated his 16th year as part of Boston Children's Hospital Miles for Miracles program.

Read more: Strong Will

AJ at college.

College search

Looking to go to college? Sarah shares her experience of searching for a college for her son in the USA.

Read more: College search

Graphic Design training at the NeuroMuscular Centre.

NMC Training and Development

NMC Training and Development run courses and workshops for anyone diagnosed with a neuromuscular condition. Learn about what is on offer here.

Read more: NMC Training and Development

  


 

 

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