The Information Point for Centronuclear and Myotubular Myopathy The Information Point for Centronuclear and Myotubular Myopathy

Newsletter for the
Centronuclear and myotubular myopathy community



Issue 2: 2017


  Sunflowe

The Big Sunflower Project

2017 was the seventh year of The Big Sunflower Project - participants this year included schools, community groups and charities, as well as those affected by centronuclear and myotubular myopathy.


More about The Big Sunflower Project

     
  Audentes logo

First patient dose in a clinical trial for X-linked myotubular myopathy

Audentes Therapeutics has announced it has commenced dosing of patients in ASPIRO, a Phase 1/2 clinical trial of AT132 for the treatment of X-linked myotubular myopathy.

More about first patient does in a clinical trial for X-linked myotubular myopathy

     
  Dr Dowling and researchers

Myotubular Trust 2017 research grant

The Myotubular Trust have announced Dr James Dowling of Sick Kids hospital,Toronto to be the recipient of their 2017 research grant.

More about Myotubular Trust 2017 research grant

     
  Conference participants

Together Even Stronger 2018

The Myotubular Trust and ZNM - zusammen stark e. V. have united to organise a bilingual (German-English) family conference to be held in London in 2018.

More about Together Even Stronger 2018

     
  Dynacure logo

Dynacure joins ongoing Natural History Study in Centronuclear Myopathies

Dynacure, a biotechnology company developing new treatments for patients affected by serious orphan disorders, has announced its participation in the 'Natural History Study and Functional Status of Patients with Myotubular Myopathy and other Centronuclear Myopathies'

More about Dynacure

     
  Will

Respiratory care in centronuclear and myotubular myopathy

This free event, run in conjunction with the Royal Brompton and Harefield hospital and the University College London hospitals.will take place in January 2018 and is aimed at all UK myotubular and centronuclear myopathy patients, their parent(s), carers and NHS professionals.

More about respiratory care in centronuclear and myotubular myopathy

     
  Action Medical Research

Action Medical Research

The Myotubular Trust recently announced a new collaboration with the renowned children's medical research charity Action Medical Research, who are now joining the quest to find treatments for myotubular and centronuclear myopathy.

More about Action Medical Research

     
  Will and Isla

Radio 4 charity appeal

The Myotubular Trust were recently featured as a BBC Radio 4 Charity Appeal. The appeal was presented by Nicholas Farrell, a British screen and stage actor and a good friend and supporter of the Myotubular Trust.

More about the Myotubular Trust Radio 4 charity appeal

     
  Family at US MTM-CNM Family Conference.

MTM-CNM Family Conference

The fifth biennial US MTM-CNM Family Conference took place in July in Nashville, Tennessee. Twenty eight states and four countries were represented with 48 families and 30 professionals attending the event.

More about MTM-CNM family conference



     
  Myo with Anne, Marie and Mel.

Myo the traveling turtle

During 2017 Myo the traveling turtle has continued his adventures, traveling around the US, to London and Marrakesh.

More about Myo the traveling turtle

     
  Jackson

 

A short film about Jackson

Diagnosed with X-linked myotubular myopathy, Jackson and his family recently featured in a short film about his life. Jackson's mum Jona tells the Information Point about the film.

More about a short film about Jackson

 

     
  Adam

A short film about Adam

Adam Foye is diagnosed with Titin-related centronuclear myopathy and recently featured in a short film about the Affordable Care Act. Adam's mum Sarah tells the Information Point about the film and why she thought it was important to get involved in campaigning at a grassroots level.

More about a short film about Adam

     
  Allie

 

The intern

Allie Welter, a biochemistry/molecular biology major at University of Wisconsin - Eau Claire, recently completed an internship at the Beggs Laboratory in Boston, one of a number of research labs which study centronuclear and myotubular myopathy.


More about the intern

 

     
  The Thornton family.

More than a gift

Want to make a difference when doing your Christmas shopping this year? There are a number of ways you can help raise funds to support people with centronuclear and myotubular myopathy. Learn how you can give more than a gift.

More about more than a gift

 

     
         
 
 
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