Hospital

On 12 March 2020 an episode of the programme Hospital featured Hari, a child diagnosed with myotubular myopathy. The programme followed Hari’s story and was about situations that cause hospital beds to be blocked.

Hari with dad Michael and mum Ellen.

For the last ten years, NHS staff have been working to meet the ever-rising demand of patients coming through the front door but increasingly, there is another pressure – after they admit a patient to hospital and have treated them, how and when will they get them out again?

With NHS ‘bed blocking’ numbers at their highest level since 2017, for those who are medically fit to leave, multi-billion pound cuts to social and community care services have left a shortage of care home beds, equipment, staff and housing, effectively stranding these patients in hospital. With a duty to oversee safe discharges, this leaves the NHS no choice but to keep these medically fit patients in hospital.

Nationally every year, 330,000 patients are staying in hospital for more than 21 days. To the NHS, these people as known as ‘super-stranded’. Hari is one of these patients.

If you missed the show, you can catch up on BBC iPlayer.

Research award for Tamoxifen clinical trial in the UK

The Myotubular Trust has recently joined forces with Great Ormond Street Hospital Children’s Charity and Sparks, the children’s medical research charity to co-fund a clinical trial, following a joint research grant call in 2019.

Studies funded by Myotubular Trust grants between 2014 and 2016, discovered that Tamoxifen, an anti-cancer drug, can significantly improve the symptoms associated with x-linked myotubular myopathy. Tamoxifen also has the benefit of having low side effects in both adults and children. It is not costly, is widely available and is already being taken safely by children for a range of other conditions.

The aim of the grant award is to prepare for and run a clinical trial to test how well Tamoxifen works in improving motor and respiratory function. The trial will be led by Dr Giovanni Baranello, and Professor Francesco Muntoni, at the University College London (UCL) Great Ormond Street Institute of Child Health. If the study is successful, it could provide the first widely available therapy for myotubular myopathy, either as a stand alone treatment for patients not eligible for gene therapy or other treatments, or as a valuable additional treatment.

Funding the preparation

New research grants take time to get up and running, particularly when they involve the complexity of setting up a clinical trial team. Therefor Myotubular Trust has already made a second, separate grant to the great Ormond Street Hospital research team. This grant funds a clinical trial co-ordinator who is already working on the regulatory and ethical paperwork and processes to ensure that the trial can begin as soon as possible.

Current grant has already funded the work of identifying the dose of Tamoxifen

Before a clinical trial can begin in humans, work needs to be done to decide what dose of a drug will be both the safest to take and the most likely to work. The Myotubular Trust 2018 – 2020 grant to Dr James Dowling at Sick Kids Canada has already funded this ‘dose finding’ work, ready for the trial to begin both in the UK and in the US and Canada too.

For further information about this grant, visit the Myotubular Trust website below.

Myotubular Trust logo

Great Ormond Street Hospital Charity and Sparks logo.

Dynacure news 2020

Clinical trial recruitment

Unite-CNM, the Dynacure sponsored clinical trial of their antisense product, DYN101, began recruiting in early 2020 at sites in the UK, Belgium and Netherlands, with an additional five European sites to follow.

Pre-clinical studies have shown that ‘turning down’ Dynamin 2 can reduce the symptoms of centronuclear myopathy, so the clinical trial will evaluate DYN101 for safety, tolerability, pharmacokinetics (how the drug works around the body) and preliminary efficacy (the effect on symptoms). It will include approximately 18 patients, who are over 16 years of age and have XLMTM or DNM2 mutations.

Further information about the trial, including inclusion and exclusion criteria, site location, recruitment status and contact details can be found below.

March 2020

Dynacure announces first patient dosed in phase 1 / 2 ‘UNITE-CNM’ Study of DYN101 for the treatment of centronuclear myopathies 

In March, Dynacure announced that a patient had been dosed with DYN101. This milestone marks the first time any company has dosed a CNM patient with an antisense medicine.  For further information view the press release below.

Dynacure logo.

Gordon W. Evans Art Leadership Award

Connie Bonfy lives in Kansas, USA and is diagnosed as an x-linked manifesting carrier of myotubular myopathy. She was recently awarded the Gordon W. Evans Art Leadership Award at Wichita’s Arts Council 50th Annual Art Awards.

Connie Bonfy

The annual Arts Council Awards were established in 1969 by the Wichita/Sedgwick County Arts and Humanities Council to recognise and honour businesses, foundations and individuals who have consistently supported the arts and humanities in the Wichita community.  You can learn more about Connie and the award below.

A graduate of Emporia State University (Drawing and Painting, Psychology) and Wichita State University (MA) in arts education/community development, Connie’s career has taken her from leading a small rural Kansas arts council, to Santa Fe, New Mexico and the Desert Chorale – a professional chorus, to a metropolitan ballet company – Ballet Wichita and more recently to Salina Arts and Humanities, a department of the City of Salina. Her diverse career also includes serving as the head grant writer for two community colleges in Kansas as well as the performing arts presenter at one. 

Connie is also a talented artist in her own right, including printmaking and painting in her studio and exhibiting regionally. Solo exhibitions include Cafe Life (2012) and Waiting for the Bus (2016) as well as several group shows.

In 2000 Connie was honoured by Kansas Governor Bill Graves with the Governor’s Arts Award for her lifelong committed work as an advocate for the arts. In 2013, she was selected to be part of the Climate Reality Project, lead by former Vice President Al Gore.

Officially retired, Connie is currently the CEO of Prairie Muses, a non profit organisation dedicated to celebrating the arts and engaging community through music, developing a short course for adults who wish to learn more about how to understand and view art and retraining to teach Art Appreciation online at Butler Community College.

Easyfundraising

The Myotubular Trust Easyfundraising eStore raises donations for the charity everytime a purchase is made there. The store has now raised a grand total of £1,429.21 for research into centronuclear and myotubular myopathy. If you haven’t heard of Easyfundraising before, you can see how it works in the short film below.

With Christmas fast approaching, The Information Point asked The Myotubular Trust to tell us why the donations are so important. Mel Spring, Communications Officer at the Trust said:

‘We are incredibly grateful for the regular donations that we receive via Easyfundraising and to those who support us this way.  We love that donations come to us at absolutely no extra cost to our supporters, and by doing something that many of us do on a regular basis – online shopping.  We were impressed at just how quick and easy it is to register and that you can even set up a reminder that pops up whenever you shop with a store that is registered with the scheme. The money that is raised on Easyfundraising is used to fund research and whilst each individual purchase may raise anything from a few pence to a few pounds, when several people join forces and register to support us, it really can make a difference. Please do consider supporting us this way – there’s no better time to register than in the lead in to the festive season when many of us become more frequent online shoppers.’

If you would like to learn more about how to fundraise for Myotubular Trust or about how they spend the money that is raised in their name, visit the Myotubular Trust website. 

 

Easyfundraising logo.

A decade of connections: US MTM-CNM Family Conference 2019

This year the MTM-CNM Family Connection hosted their sixth biennial US MTM-CNM Family Conference. Below they write about the event. Photos courtesy of Levi Gershkowitz of Living in the Light.

Erin, Mark and Marie from the MTM CNM Family Connection at the MTM - CNM Family Conference 2019.

Erin, Mark and Marie from the MTM CNM Family Connection at the MTM – CNM Family Conference 2019.

We are so grateful that we had the opportunity to celebrate ‘A Decade of Connections’ while hosting the sixth biennial US MTM-CNM Family Conference in St Louis, MO from  19 – 21 July 2019. Approximately 175 people attended the conference gathering 48 families and over 30 professionals from our rare disease community, as well as so many families represented in spirit who were not able to travel.

Our conference theme ‘Through the Gateway: Expanding Possibilities’” echoed St Louis’ iconic arch and gave our community an opportunity to reflect on ‘gateway moments’ that attendees have experienced on this rare disease journey – whether living with MTM/CNM, caring for someone, or working tirelessly for our community and look with hope towards the expanding possibilities before us.

The Kalejaiye family.

The Kalejaiye family.

We were grateful to have several of our lead researchers and pharma industry professionals working on behalf of our community join us and share the very latest on MTM and CNM research and advancements in treatments and also engage in an interactive clinical care discussion along with patients and families.   A strength of our conference is also providing medical professionals an opportunity to hear our patient and family stories, experiences, and insights as well, and collaboratively learn together.

Clinical Care Panel Discussion at the MTM-CNM Family Conference 2019.

Clinical Care Panel Discussion at the MTM-CNM Family Conference 2019.

Presentations covered such topics as genetics, diagnosis, clinical care, breathing, carrier issues, and the development of three potential treatments.  The three potential treatments that were presented at the conference this year included: Gene Therapy sponsored by Audentes, ASO Knockdown of DMN2 sponsored by Dynacure and re-purposing an existing drug (Tamoxifen) lead by Dr Jim Dowling’s Lab at The Hospital for Sick Children, Toronto.

We are also appreciative of the collaborative patient/family and professional discussion forum that followed the formal presentations on Saturday afternoon.  This year’s focus was on exploring clinical care guidelines and the potential need to expand resources and research in this area to ensure that optimal care is given to our loved ones.  It was an exceptional opportunity for both families and professionals to exchange information and experiences with each other in thoughtful and open dialog.

Attendees at the MTM_CNM Family Conference 2019.

Attendees at the MTM_CNM Family Conference 2019.

Our conference certainly highlighted the ‘Expanding Possibilities’ for our MTM-CNM community both in terms of promising treatments in development, as well as activating our community to become engaged partners and participants in the drug development process.  Our MTM-CNM Family Connection team held a panel on the importance of legislative advocacy and announced the development of COLA (Committee on Legislative Advocacy).  We will continue to educate, advocate, and activate our community to be the best advocates for our loved ones as we continue to pursue therapeutic treatments for all.

Families and individuals also shared valuable information about living with MTM and CNM and helpful resources with each other.  Strong connections were made over the weekend and the strength and support of our MTM-CNM Family Conference community was palpable. It gave us energy to continue our journeys and we made lasting memories to carry home with us.

US MTM-CNM family conference group photo.

US MTM-CNM family conference group photo.

 

Myotubular Trust fundraising events 2020

Our friends at Myotubular Trust have places on offer in several fundraising events in 2020.  As there is no public funding available to fund research for centronuclear and myotubular myopathy, the Trust rely heavily on people taking part in these events and the support of the networks of those affected by the condition.

Given the rarity of centronuclear and myotubular myopathy, this network is relatively small but the funds raised by supporters to date has made a huge difference in the journey to finding a treatment for the  conditions, whether it’s contributing to Ana Buj Bello’s work on gene therapy, Jocelyn Laporte’s work on DNM2 down regulation, Jim Dowling’s pre-clinical work on re-purposing tamoxifen for x-linked myotubular myopathy, or going toward the current grant round. You can see what a difference a small army of supporters can make below. A small army really can make a difference.

If you, or someone you know, would like any further information about any of the events shown on this page, please email Myotubular Trust.

Or if you prefer, you can organise your own event. See the ‘Fundraising News’ page on the Myotubular Trust website for more information.

Please note: every penny raised by supporters goes into research, as the Myotubular Trust raise the running costs of the charity separately

Myotubular Trust London Hope Walk 2019.

Myotubular Trust London Hope Walk 2019.

Myotubular Trust logo