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Join our 2018 London 10 bridges, 10 kilometre walk

 

 

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2018 London 10 bridges, 10 kilometers Hope Walk…join us!
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2018 LONDON 10 KILOMETERS, 10 BRIDGES HOPE WALK
SATURDAY 12TH MAY

Given its popularity, we’ve decided that we will be doing our London Hope walk again this year, crossing 10 of London’s iconic bridges. We will be walking 10km, starting on London Bridge and finishing with a picnic in Battersea Park.

There’s plenty to see along the way and you can meet your fellow walkers, or join up with your supporters at one of the many famous London sights. Some people take it easy, taking in the views along the way, whilst others power walk it! Some might even take in the pubs, coffee spots and shops…  It’s entirely up to you – do it fast or do it slow.

The walk is on Saturday 12th May, starting at 9.30am at London Bridge…finishing time is up to you. To register please click on the button below.

If you have walked with us before, you’ll already know what a great day it is, so please spread the word and invite your friends and family along.  We’d love to see you there.

REGISTER NOW
Registration is £20 and covers T-shirts and pit-stop snacks. How much you raise through sponsors is up to you, but if 50 people were to raise £100, that’s another £5,000 towards the great work being done by researchers finding a treatment for myotubular myopathy.
SET UP YOUR FUNDRAISING PAGE HERE
If you would like information on arranging a walk in your own area, please do get in touch.
We’d love to hear from you.
Thank you for your time and support
Finding Strength in Numbers

Our mailing address is:
contact@myotubulartrust.org
Registered charity number 1137177

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Research Publication 2017 Newsletter

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Combinatorial therapy as a novel treatment strategy for myotubular myopathy
We are delighted to announce our 2017 grant award to Dr James Dowling of Sick Kids Toronto. Two existing drugs, currently licensed for use in children who have other conditions have been identified by Dr Dowling’s team as showing encouraging signs of improving the symptoms of myotubular myopathy.

This 3 year grant from Myotubular Trust will allow Dr Dowling and his team to investigate the effectiveness of these drugs, either alone or to complement other therapies. Repurposing medicines that are safe and have been used and studied in children is a very exciting goal for rare diseases. We are delighted to be making our 2017 grant of £216,000 to Dr Dowling to pursue this promising project.
“Because these drugs have previously been used in children, we feel that the pathway for clinical development and testing of them can be feasibly accomplished in a timely and cost effective manner.”                                                                                                                           Dr Dowling

Continuation of previous grant – PI(3)P levels
During the course of this grant, Dr Dowling’s laboratory will also continue to develop on previous awards by the Myotubular Trust. Loss of MTM1 results in the accumulation of a lipid called PI(3)P in someone with myotubular myopathy. This project will continue to develop inhibitors of PI(3)P that work well in humans, and can be translated to clinical use.

“Furthermore, we believe these therapeutic strategies may be applicable to the broader range of patients with centronuclear and myotubular myopathy.”                                                   Dr Dowling

We are delighted to be supported by our friends at ZNM – Zusammen Stark! in this 2017 research grant round

Other Research news – first clinical trials

The other promising news this autumn is that the first patient in gene therapy clinical trials was dosed in mid September. This trial is being sponsored by Audentes Therapeutics who hope to report preliminary findings early in 2018.  The ground breaking proof of principle for this gene therapy was established by Dr Ana Buj Bello of Genethon in Paris, and the Myotubular Trust are very proud to have funded this work from its early days.  This was our first first research grant as a charity, and it was very much seen as novel territory at the time.  Our ability to fund something as promising as this just 2 years after our founding  was down to the amazing supporters and families who have backed us from the very beginning, and helped to create a research fund that was able to make a real difference.

Collaboration with renowned medical research charity

In September we announced a collaboration with the renowned children’s medical research charity, Action Medical Research, in our quest to find a cure and treatments for myotubular and centronuclear myopathy.  Since their founding in 1952, Action Medical Research have been instrumental in funding medical breakthroughs – from the first UK polio vaccines to developing the use of ultrasound technology in pregnancy.

We are honoured that they have chosen to partner with us, and look forward to working together. We have  announced a joint project grant call for 2018, of up to £200,000. Round one closing date for applications is 21st November 2017.

 

 

Listen to interview with Dr Dowling and the Myotubular Trust founder, Wendy Hughes here

Thank you! Please do help us continue to fund research that will bring other promising therapies to proof of principle, and clinical trial, until all those affected by centronuclear and myotubular myopathy have a treatment available.

Donate now if you’d like to help with our next research grants


 

 

 

Radio 4 appeal

 

 

 

 

 

 


BBC Radio 4 Appeal

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It is just a week until our Radio 4 charity appeal goes on air!  Now that we are in the final countdown, we would love your help to spread the word.

To help us make the most of this fantastic opportunity to raise vital research funds, please share this newsletter with your friends, family and colleagues.

Tune in on BBC Radio 4
Sunday 29th October – 7:55am & 9:25pm
Thursday 2nd November – 3.25pm  
Read more about this appeal and why it is so important for the Myotubular Trust here or on the appeal page of the BBC websiteDonations for the Myotubular Trust from the BBC site will start from Sunday morning 29th

Or click here to donate now

Thank you so much for your continued support.

 

 

 

 

 

 

OUR CHARITY APPEAL ON BBC RADIO 4….

PLEASE HELP US TO SPREAD THE WORD


End of 10th Anniversary year

 

 

 

 

 

 

 

 

 

 

Our anniversary message, from the Myotubular Trust

 

 

 

 

 

As we approach the end of the year where we celebrated
our 10th birthday, we thought we’d share with you
the highlights of the journey so far.

Accelerating Scientific Breakthroughs

 

 

 

 

 

With your invaluable support we have raised in excess of £1.75M
which has enabled us to fund 12 international research projects,
several of which have the potential to lead to a treatment.

On The Cusp Of Treating The First Patients

 

 

 

 

 

We’ve funded a number of projects that are very likely
to lead to human clinical trials….
The work of Dr Ana Buj-Bello that led to the proof of principle for gene therapy
Dr James Dowling’s work on reducing levels of phosphate called PI3P
Dr Jocelyn Laporte’s cross therapy approach – reducing the levels of protein controlled by one gene to treat the symptoms caused by another gene.

Getting Families Together

 

 

 

 

 

We’ve also hosted four family conferences, bringing together affected individuals
and families, researchers, clinicians and healthcare professionals.  
The 2016 Conference was co-hosted with our German friends
at ZNM – Zusammen Stark.

Every year we have had an increase in the number of families connecting with us,
and supporting us and each other, from all around the globe. Together we’re stronger.

Discovering New Genes

 

 

 

 

 

We awarded two research grants that contributed to the discovery of new genes implicated in centronuclear and myotubular myopathy.  The discovery of new genes highlights new potential research avenues and gives hope to families who currently do not have a genetic diagnosis. 

Our Corporate Companions

 

 

 

 

 

We’ve been chosen as Charity of the Year by some great companies
who have done some amazing fundraising.

Collecting Disease Specific Data

 

 

 

 

 

We created the first international disease specific Patient Registry for myotubular and centronuclear myopathy.  The Registry was developed in partnership with many patients and a number of leading neuromuscular researchers.  It is now run by the
TREAT-NMD neuromuscular registry team at Newcastle University.

Fundraising By You!

 

 

 

 

 

We’ve been supported by hundreds of fundraisers who have run, jumped, walked, swung, swum and more, to raise much needed research funds.  There have been
so many fundraising initiatives over the years.  Please keep coming with
those wild and wonderful ways to fundraise – we absolutely love them!

May 2017 – A Month Of Hope Walks

 

 

 

 

 

The Hope Walks are regional family led events in the month of May that have
raised over £250,000 and covered over 300 miles!
Watch our website for information on how to join one near you this year.
To arrange your own, however small, please contact us for help.

Making Cures Happen

 

 

 

 

 

Please continue on this journey with us.  Together we are making cures happen!

Whilst great strides are being made, there is still much work to be done
to find cures and treatments for everybody living with myotubular and centronuclear myopathy.  We’d love to hear from anybody who is interested in supporting our work.

We simply couldn’t have achieved everything to date without your support.
Thank you so much for making this possible.  We are incredibly grateful and we hope that you will continue this journey with us.

Donate now

 

 

Rare Disease Day

 

 

 

With research, possibilities are limitless….please support us

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RARE DISEASE DAY 2017

It’s Rare Disease Day on the 28th February, a day of international events to raise awareness of rare diseases.
With this spotlight on rare diseases, can you help by organising your own fundraising event for The Myotubular Trust around the end of February?
Or maybe a standing order donation to start on the 28th February?
Contact us now for any assistance you might need, we’d love your support contact@myotubulartrust.org

WITH RESEARCH POSSIBILITIES ARE LIMITLESS

DONATE NOW

 

 

 

Research Publication 2016 Newsletter
HIGH IMPACT PUBLICATION
Good news to start the Autumn….Dr James Dowling of Hospital for Sick Kids, Toronto, Canada received Myotubular Trust grants in 2014 & 2015. The great results to date from his promising treatment strategy for myotubular myopathy were recognised by being published in the Journal of Clinical Investigation this summer. We congratulate Dr Dowling and his team on such an eminent publication and look forward to the continue progress of this potential therapy.
To read the Journal of Clinical Investigation http://www.jci.org/articles/view/86841

With thanks to all of you who help us to fund such groundbreaking work.

Want to know a little more?
Firstly the science basics …the MTM1 gene creates the enzyme myotubularin which is, among other things, responsible for removing phosphates from lipids called phosphoinositides.
Therefore the loss of MTM1 results in the accumulation of a specific phosphoinositide called PI(3)P in the body of someone with myotubular myopathy. Dr Dowling proposed investigating whether finding a way to bring down levels of PI(3)P could improve the symptoms of the condition.
The low down on the findings being published in this journal?
Dr Dowling and his team have

1) shown that genetically stopping the production of PI(3)P can ‘completely rescue‘ the symptoms of myotubular myopathy – making the very important genetic link between the PI(3)P and myotubularin.
2) tested a number of targeted existing drugs (i.e. drugs that are already licensed and safe for use in humans) and other chemical compounds, and identified a number with the ability to reduce PIP(3), proving also that it is possible to ‘improve motor function and prolong survival‘ with some of these drugs.
3) shown that this is a really promising route to a viable potential treatment, alone, or alongside other treatments, and they continue to narrow down the most effective compound or drug that can be used in patients.
Read more about this grant on Myotubular Trust research pages
We are also delighted that as a result of this work by Dr Dowling, a second potential route to a treatment has been identified, and a clinical trial is planned shortly. Read more about the fundraising campaign for this project by our US friends,
Where There’s a Will There’s a Cure.
Will-Cure campaign #TogetherEvenStronger
Patient organisations sharing patient data

 

 

 


Our advice on sharing your personal medical data

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Our advice on sharing your personal medical data

We are writing to you jointly as Patient Advocacy Groups for our group of conditions, myotubular and centronuclear myopathy.

This week has seen a rise in the number of questions and queries about organisations looking for patient data. In particular, this was in relation to a new website that suddenly emerged in our community, called Rare Patient. Rare Patient is asking our families to volunteer our personal and sensitive medical data through social media, in order that they can connect us with researchers and new treatments as they become available.

To answer many of your questions about Rare Patient, they are owned and operated by a company called Seeker Health. Seeker Health is a private company that operates as a ‘contact agency’ to help find patients for clients that are working on drug development. Audentes Therapeutics have contracted with Rare Patient to assist with market research, and to provide an additional method of finding patients who may be interested in their drug development programs, including X-Linked Myotubular Myopathy, and to gather their personal patient information. We are not in a position to comment on that particular arrangement, but we do have some suggestions on what you might wish to consider when sharing your data with any company, institution or patient group.

Your information is valuable

As the field of research for our community gets more exciting, patient registries, databases, studies and trials are even more critical in the search for promising new treatments for rare neuromuscular diseases. The very rarity of these conditions make our participation and personal medical data invaluable for researchers, biotech companies and other companies involved in different ways in the search for effective therapies.

Multiple ways to participate in data collection

There are many rare disease registries that exist to gather such information, and they vary from patient-led and university/researcher managed to those owned and run by private companies. Their policies and approaches vary accordingly.

Our best advice to protect your personal and medical data

DO your research. If an organisation is looking for your data, make sure this is for a legitimate project which has been set up with all the necessary ethical approvals and data protections in place. If this information is not freely available on their website, ask for it.

DO look for the parent company or other sponsor of a website or advertisement. Who is providing the funding?

DO read all of the patient information provided by the organisation holding your data. There’s a lot you might not expect to see in the small print.

DO check that small print. Who will have access to your data? What will they be using it for? Who will they be allowed to share it with? Will they sell it on?

DO think about the future. How long are they planning to keep your data for, and what are they going to do with it afterwards? Being a rare disease our knowledge and data could be useful to researchers for a very long time, way beyond what we can envisage now. If you are only going to register somewhere once, does the organisation you have chosen to hold your data this sound like the best place?

DON’T imagine that sharing your data is the only way for your child to get on a clinical trial. Biotech companies will not select any patient for a clinical trial. That would be unethical and is forbidden by law. Only the doctors in charge of the clinical trial will select patients

DON’T feel pressured. Just because our data is useful, and we desperately hope for a successful treatment, we should never feel obligated to share it before we are fully informed and confident that it’s the right decision for our personal situation.

We hope you found this helpful and if you have any questions, do please continue to ask us.


 

 

 

10th Anniversary Film announcement

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This film was made in 2016 to mark 10 years of fundraising.

We are truly grateful to all those who have supported the Myotubular Trust in the 10 years since we were founded.
Your support has made it possible to fund promising, pioneering research. Thank you so much.
This film has been made with the kind sponsorship of 

To view the film with German subtitles, courtesy of our partner family association,          ZNM – Zusammen Stark! e.V., click the button below
ZNM – Zusammen Stark!

Donate now


10th Anniversary WALK

 


The final bridges you’ll be crossing this day next week

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10 YEARS, 10 MILES, 10 BRIDGES WALK

Finally, the story of the last bridges on our walk next Saturday…

Long before there was a bridge at Lambeth there was a very busy horse ferry crossing, as this spot linked the home of the Archbishop of Canterbury, Lambeth Palace, on one side, and the King’s Palace at Westminster on the other.  One of the most famous crossings of the Thames just here was that of Guy Fawkes’ gunpowder, which had been hidden south of the river.

The first bridge was built here in 1862, and rebuilt after World War 1. Did you know that Lambeth Bridge is painted red, like the colours of the benches in the House of Lords, just as Westminster Bridge is painted green like the colours of the benches in the Commons?

The first Chelsea Bridge was intended to be called Victoria Bridge but was constructed so badly that its name was changed to protect the Royal Family should it collapse!  The bridge was built to bring people over from highly populated Chelsea to the new expanse of Battersea Park, which had been dredged from marshlands as part of the great Victorian expansion and development of London.  It was decided that the bridge could be very plain, as the newly constructed Battersea Power Station already dominated the view.
Built in 1873, Albert Bridge is the only bridge in London with its tollbooths still in place, although not in use since 1879.  The bridge was not designed with motor vehicles in mind, and today has strict traffic controls to try to prolong its life.  It was painted in bright colours 25 years ago to avoid ships damaging it, and has over 4,000 LED lights, making it one of London’s most striking landmarks. It has been nicknamed ‘The Trembling Lady’ due to a tendency to vibrate when large numbers of people walk over it. There’s even a sign warning troops to break step.  Wait until they hear we’re coming…
Battersea Bridge replaced a ferry service that had been operating at this spot since the 16th century.  This first Battersea Bridge was the last surviving wooden bridge in London, and the subject of famous works by artists such as Whistler and Turner. The bridge is situated on a bend in the river, and as a result is surprisingly often the scene of shipping collisions.
This bend also made it very easily fordable in ancient times, and it is believed to be the spot where Julius Caesar crossed the Thames when the Romans invaded Britain in 54BC.  And now us! Looking forward to seeing you there on Saturday.

 

 

 

 

Want to have all bridge stories in one place?  Here are the first ones again…

We start our walk on London Bridge. OK…so this is actually a picture from London Bridge. These two are regularly, and famously, mixed up.  We start our walk with this great view of the world famous Tower Bridge, which dates back to 1894. It took 8 years and 432 construction workers to build. Two massive piers were sunk into the river, and the steel was covered in Cornish granite and Portland stone, to give it ‘a pleasing appearance’.
The current London Bridge opened in 1973. Its predecessor was sold to an American and reconstructed in Arizona in 1971, where it still stands.
The first London Bridge served the city for over 600 years. It had a central chapel, many shops, and houses up to 7 stories high. The wooden buildings had an inconvenient tendency to catch fire. In medieval times the severed heads of many ‘traitors’ were displayed on spikes on the Southern gatehouse, including William Wallace (Braveheart in the film!).
In May 1811 a Bill was passed for the erection of a new bridge to cross the Thames a quarter of a mile west of London Bridge, and to be know as Southwark Bridge.  The work was done by a private company, and the cost stated to have been about £800,000, though it would appear from contemporary records to have been considerably less…what a novel construction idea! The current version dates from 1921.
Millenium Bridge was built to commemorate the new millenium. It was unstable when it first opened, giving it the slighly worrying nickname of The Wobbly Bridge. Hundreds of people walked over it on the first day of January 2000 before it was closed down for a little bit of reassuring repair. The bridge links Tate Modern to St. Paul’s Cathedral.
The lovely pink structure that is Blackfriars Bridge was opened in 1769, the third bridge spanning the Thames. It was called William Pitt Bridge, but slowly the name Blackfriars, named after a local monastery, took over. It was originally planned as a toll bridge, which proved very unpopular, and to this day remains the least crossed bridge in the city.

The original Waterloo Bridge was opened in 1817 just two years after the Battle of Waterloo. The elegant John Rennie design attracted many admirers including Claude Monet who painted it no less than 40 times from the windows of his rooms at the Savoy Hotel. After more than 100 years of use it had to be closed. The new bridge was mainly built during the years of the Second World War, with a largely female construction team, earning it the name the Ladies Bridge.
The first Hungerford Bridge was designed by one of the country’s most famous sons, Isambard Kingdom Brunel, and opened as a footbridge in 1845. Over the years it became dilapidated, and even gained a reputation for being dangerous-it was the site of an infamous murder in 1999. A competition was announced to design a replacement, and in 2002 two new footbridges were opened. They were named the Golden Jubilee Bridges in honour of the Queen’s Jubilee.

Westminster Bridge is the oldest bridge crossing the river in Central London, opening in 1750. The ‘new’ design, from 1862, has Gothic detailing by the architect of the Houses of Parliament.

Earth has not anything to show more fair:
Dull would he be of soul who could pass by
A sight so touching in its majesty:

All bright and glittering in the smokeless air.
Never did sun more beautifully steep
In his first splendor, valley, rock, or hill;
Ne’er saw I, never felt, a calm so deep!
The river glideth at his own sweet will:

William Wordsworth, Composed upon Westminster Bridge, 1802

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Christmas 2015
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