The Myotubular Trust 2020 grant call is now open and scientists from around the world are invited to apply for a research grant.
The goal of their work must be to help find a cure or treatment for any of the forms of myotubular and centronuclear myopathy. You can read about the grant call below.
The Trust was founded in 2006 with the hope of making a small difference with a little money. Since then they have raised over £2,100,000 with the help of many families and supporters, and funded 15 substantial research projects. You can read about what the Trust are doing to fund treatments below.
Lizzie Kemp recently decided to have over 20 inches of hair cut off to raise money for the Myotubular Trust.
Afterwards her hair was donated to a charity that will use the hair to make into wigs for people with cancer.
A new European study, led by Dr Nicol Voermans of Radboud University Medical Centre, The Netherlands, is looking into the possible muscle symptoms in female carriers of myotubular myopathy. The study is keen to recruit as many female relatives of boys and men with x-linked myotubular myopathy as possible, plus manifesting and confirmed female carriers too.
Dr Voermans has a special interest and expertise in congenital myopathies and the study team consists of Professor Ulrike Schara, Essen (Germany), Professor Heinz Jungbluth, London (UK) and Dr Carsten Bonnemann, NIH (USA).
This study concerns all female relatives of boys and men with the X-linked form of myotubular myopathy whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins, with the aim being is to visualise the entire spectrum of symptoms in carriers.
The study consists of a number of digital questionnaires which you can fill in at home. Possibly, a follow-up of this study will be performed in the future, when the Coronavirus situation allows it. The follow-up would consist of some simple neurological tests.
The results of the study will give a better understanding of the disease and improve the health care for female carriers. In addition, it can contribute to clinical trial preparedness.
To be able to participate in this study, you must be 18 years or older and you must be able to fill in the digital questionnaires. This study is currently limited to Europe.
If you are interested in participating and would you like to receive more information about this, email firstname.lastname@example.org to express your interest.
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.
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.
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.
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.
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.
Artwork by Connie.
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.