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

National conversation on rare diseases

The Minister for rare disease at the Department of Health and Social Care, Baroness Blackwood, recently announced a national conversation to understand how we can better care for people living with rare disease.

This survey aims to identify the major challenges faced by rare disease patients and the people and organisations that care for them. The themes identified in the survey will feed into a framework to follow the current UK Strategy on Rare Diseases, which runs until the end of 2020.

The survey is seeking input from the rare disease community across the UK, including patients, families and carers, rare disease medical professionals and GPs, clinical academics and industry experts.

You must be living currently in the UK and over 16 years to take part in the survey. If you are under 16 years and are living with a rare disease, please ask a family member or carer to fill in the survey for you.  For further information see below.

The deadline for responses is Friday 29 November 2019.

Audentes news 2019

May 2019

In May Audentes released new data at the American Society for Gene and Cell Therapy (ASGCT) to include more positive feedback about their AT132 gene therapy trial programme (ASPIRO), which is aimed at patients with x-linked myotubular myopathy (MTM1) aged up to five years.

Outcomes from nine patients in total were shared at the meeting. Chairman and Chief Executive Officer of Audentes, Matthew R Patterson said “We are excited to share today’s results and are working hard toward our goal of making AT132 available to patients living with XLMTM globally as rapidly as possible. We look forward to important next steps for the program, including selection of the optimal dose and further discussions with regulators in the U.S. and Europe regarding possible pathways to license applications.”

October 2019

In October Audentes presented new positive data from ASPIRO, the clinical trial evaluating AT132 in patients with X-Linked myotubular myopathy, at the 24th International Annual Congress of the World Muscle Society. The data was presented  by Dr James J Dowling from the Toronto Hospital for Sick Children. Dr Dowling said “The new ASPIRO data shared today builds upon the encouraging efficacy and safety profile seen to date with AT132. Treated patients across both dose cohorts show significant reductions in ventilator dependence and the progressive attainment of developmental motor milestones, suggesting that AT132 has the potential to deliver transformative benefit to patients and families living with XLMTM.”

Natalie Holles, President and Chief Operating Officer of Audentes said “We remain focused on our goal of rapidly progressing AT132 toward global regulatory approvals. Importantly, we have fully enrolled 14 patients into the ASPIRO dose escalation cohorts, and plan to complete enrolment of the ASPIRO pivotal expansion cohort imminently. ”

November 2019

In November the organisation reported its third quarter 2019 financial results and provided a corporate update. Matthew R Patterson, Chairman and Chief Executive Officer stated “AT132 continues to show a promising safety and efficacy profile in patients with XLMTM, with the first seven treated patients now ventilator independent.  Beyond AT132, we are excited about the significant momentum building across our entire pipeline of development candidates.”

Share your experience with x linked myotubular myopathy (xlmtm): a survey for the US X linked myotubular myopathy community

Also in November, Audentes Therapeutics  launched the xlmtm parent and caregiver community survey in the US.  Initially the survey is live for US based families, with UK and German versions coming in early 2020.

Families and caregivers economic and quality of life impact of xlmtm study.

The survey aims to gather important data related to the quality of life and economic impacts of xlmtm and to create a more thorough understanding of the quality of life and economic impact of xlmtm on families and caregivers. The results of this survey will be published and shared with the xlmtm community and may be shared with health policy makers and insurance companies to support patient access to future treatments. 

More detailed information about the study is available below.

Share your experience

Audentes logo.

 

2020 European conference

The next European centronuclear and myotubular myopathy family conference will take place in Bad Nauheim, near Frankfurt from 21 – 24 May 2020.

The conference will be hosted by:

A booking form for the event will be available shortly.

European family conference.

Attendees at European family conference.

Action for Access

Genetic Alliance UK recently launched the Action for Access campaign at the Houses of Parliament, All Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions and published a report that details the changes they want to see to improve the assessment process for rare disease medicines.

With new breakthroughs in research now emerging for our conditions and the possibility of treatments for some of the genetic mutations which cause myotubular and centronuclear myopathy a tangible distance away – now is a really important time to join Myotubular Trust in supporting the Action for Access Campaign.  Wendy Hughes attended the launch of behalf of Myotubular Trust and below writes about the event and what the campaign hopes to achieve.

On a rainy afternoon in late October, along with other members of Genetic Alliance UK, we assembled at the Houses of Parliament in London to celebrate and to support the launch of a new UK wide campaign called Action for Access.  The goal of this campaign is to ensure that the NHS in the UK reviews and changes the current decision making processes to modernise them and ensure that they are much fairer and more streamlined, therefore preventing unnecessary delays in patients of rare disease getting the treatments they desperately need to improve their health and quality of life. 

The plan is for us to form a new dialogue on the future of patient access to rare disease medicines. This comes following a damning review of the current systems operated by NHS England which sees UK falling drastically behind other European nations in terms of treatments available.  It also means patients and their families can be left in the dark, unsure of what’s next.

Many parents and groups, including Myotubular Trust, spoke about their fears about and experiences of the current new ‘highly specialist technology’ (or new medicines and medical equipment) appraisal system. There were emotive case studies spoken about, where patients had been waiting for months, sometimes years, to access an approved drug or device that was new to the market via the current system.

Everyone at the meeting agreed that we needed a new way forward to address the issues of access to rare disease medicines in the UK and to resolve the problems of uncertainty, change the system to assess new drugs, and pricing problems that often stalls drugs reaching patients when the industry and government can’t agree.

Catherine West MP chaired the meeting at the Houses of Parliament at the All Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions and made a rallying speech, saying that as part of that campaign we all need to take action over the coming months to raise awareness of our rare conditions and the issue of access to medicines with our MPs. In this regard, Genetic Alliance will be providing us with some targeted actions which will be specific to our own patient group’s aims, which we will be announcing over the coming weeks and months.  

Further information

Action for Access logo.

 

Fundraising for Rubén

Rubén (Roo) is one year old. He lives in the UK and is diagnosed with myotubular myopathy.  Earlier this year his mum Siân held a hugely successful fundraising event for Myotubular Trust, attended by more than 230 guests who came out to celebrate Rubén.

Fundraising for Ruben.

Fundraising for Ruben.

Siân says ‘We wanted to do something to give back to the Myotubular Trust for all of their much needed support since Rubén’s diagnosis. We wanted to do something where we could get all of our friends and support together under one roof and celebrate them too and that is what we did.

We had over 230 people pass through the doors and hand over their pennies and pounds for multiple chances at winning amazing prizes, auctions and more and boy did they spend. Everyone had the most amazing night and there was a sore head or ten dozen come the morning. We all enjoyed it so much, I think we will make it a regular occurrence. Money well spent, for such a special charity.’

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.