Using 'Give as you Live' is a really easy way to help us raise funds for DFSG. Use the link to go shopping and help support DFSG. Some retailers give up to 3% commission and in December 2015 DFSG made £150 from 'Give as you Live'.
The Duchenne Family Support Group - DFSGThe Duchenne Family Support Group (DFSG) exists to provide support for families with children diagnosed as having Duchenne Muscular Dystrophy (DMD).
The DFSG is a national charity run by families for families affected by DMD. It provides a positive national support network of parents, their families and professionals.
The DFSG helps bring families together for mutual support, sharing of information and experience, and social activities and has been doing so since 1987.
SKIP-NMD (Skipping exon 53 of the dystrophin gene) Positive Data AnnouncementThe project is yielding some very encouraging results and thanks are due to all the participants.
The levels of Exon skipping and protein restoration demonstrate unequivocally that the antisense* has worked and is determining the expected skipping in the children studied. The dystrophin levels are higher than those obtained in the previous study with eteplirsen and Exon skipping could be demonstrated in all patients. Protein expression by one method or the other also essentially in all patients (data are still being analysed regarding the different analysis done i.e. correlation between protein on blot; protein on immune and RT-PCR so granular data will take a little longer to emerge). All biopsies could be analysed; one or two biopsies are at the smaller end of the spectrum of what was ideal, but all biopsies could be analysed. So thanks to all of you as not a single biopsy was lost in the study.
It is still premature to be certain on whether these data will translate in clinical benefit for the boys. Tclinical benefit timeline for analysis has been postponed from 48 weeks to 3 years as the data at 48 weeks would have not been meaningful as the timeline too short, based on all our understanding of this class of drugs. So we have not shown that the drug makes children better, this will take longer. But at least we have shown that the drug works at least as well as Eteplirsen (in actual fact data indicates works significantly better); and that the data analysis was done properly, so there should not be anxiety on how regulators will assess the quality of these data, which has been an issue in previous trials.
*antisense
Having a sequence of nucleotides complementary to (and hence capable of binding to) a coding (or sense) sequence, which may be either that of the strand of a DNA double helix which undergoes transcription, or that of a messenger RNA molecule.
The SKIP-NMD project was originally funded by a European Union (EU) grant that allowed the completion of the first phase of this first-in-human Phase I/II clinical trial, 4053-101. It was an international project coordinated by Professor Francesco Muntoni of Great Ormond Street Hospital in London, involving a consortium of 10 academic partners across Europe (UK, France, Belgium and Italy) and the US. It also included the involvement of several companies Sarepta Therapeutics, Inc., Consultants for Research and Imaging (CRIS), and SYSNAV (expertise in indoor/outdoor robust navigation and positioning systems) who provided their new advances and techniques in translational Duchenne research, and six patient organizations: Action Duchenne, Association Française contre les Myopathies, Duchenne Family Support Group, Duchenne Parent Project France, Duchenne Parent Project Onlus, and Muscular Dystrophy UK... Read full article >>>
The 2017 Virgin Money London Marathon took place on 23rd April 2017. £10,630 was raised through the efforts of our runners for which we say a heartfelt 'thank you'. The previous 2016 marathon was our best ever London Marathon fundraiser and we are looking to exceed both these totals in 2018 when the marathon is scheduled for 22nd April 2018. There are limited places for runners available, please contact DFSG if you are interested in participating
This historic decision would make available on the NHS the first ever drug to treat an underlying genetic cause of Duchenne muscular dystrophy.
In order to give time for NHS England and the drug company, PTC Therapeutics, to agree an final acceptable price, NICE has set July as the date where its recommendation will become final. We’ll then be pushing NHS England to implement this decision in order to get the drug to boys in clinic as quickly as possible. Read More
Friday 27th October 2017 Muscular Dystrophy UK brought together adults living with Duchenne muscular dystrophy, health professionals, partner charities and pharmaceutical representatives to discuss new best-practice care recommendations being created for health professionals supporting an adult with Duchenne in the UK.
Developed by the Mayor of London and his agencies in 2013, Prudential RideLondon is a world-class festival of cycling. The fifth edition took place over the weekend of 28-30 July 2017. The event features the Prudential RideLondon-Surrey 100 – a 100-mile challenge which three cyclists rode in support of DFSG
Muscular Dystrophy UK has launched the second edition Adaptations manual: for children and adults living with muscle-wasting conditions. Families regularly approach Muscular Dystrophy UK with questions about the best adaptations to get for themselves and for family members. The second edition of the adaptations manual aims to answer those questions.
In December 2015, eight patient organisations, who are working to help support clinical trial development for Duchenne muscular dystrophy, announced a total of £1.2million of investment, to fund a total of 16 clinical posts. Today we are announcing that TEN of those SIXTEEN posts have now been recruited. The posts are at Great Ormond Street Hospital NHS Foundation Trust in London (GOSH), The John Walton Muscular Dystrophy Research Centre at Newcastle University, University Hospitals Bristol NHS Foundation Trust and Alder Hey Children’s Hospital in Liverpool.
Charities announce £1.2million investment in key clinical posts at leading Neuromuscular Centres for Duchenne Muscular Dystrophy. Eight patient organisations, who are working to eradicate Duchenne Muscular Dystrophy, are funding a total of 16 clinical posts at Great Ormond Street Hospital in London, The John Walton Muscular Dystrophy Research Centre at Newcastle University and Alder Hey Children’s Hospital in Liverpool, to help support clinical trial development for Duchenne Muscular Dystrophy. The DFSG are pleased to be involved with this project and although not supporting financially as this is not in our remit, we are working closely with all of the charities in a n advisory capacity .
Encouraging results on the successful completion of the first part of a clinical trial to skip exon 53 in boys with Duchenne muscular dystrophy have been reported at the SKIP-NMD Consortium meeting that took place in Sardinia from the 24-25 June 2015. Full report published here...
Demos, an independent think-tank (research charity) based in London, are looking at what support is available across the UK for children and young people with complex disabilities, life-limiting and life-threatening illnesses, and their families. They are collecting evidence and are asking for families affected to complete some surveys.
NICE has recommended funding on the NHS in England for Translarna. This historic decision would make available on the NHS the first ever drug to treat an underlying genetic cause of Duchenne muscular dystrophy. Translarna would treat boys whose Duchenne is caused by a nonsense mutation, who are aged five years and over and who are still able to walk. In order to give time for NHS England and the drug company, PTC Therapeutics, to agree an final acceptable price, NICE has set July as the date where its recommendation will become final. We’ll then be pushing NHS England to implement this decision in order to get the drug to boys in clinic as quickly as possible.
SKIP-NMD is funded by the European Seventh Framework Programme FP7 and involves research institutions and muscle centres from France, Italy and the UK. The aim of the consortium is to carry out a new clinical trial to test a molecular patch for exon 53. This is to restore dystrophin production in a subset of boys with Duchenne muscular dystrophy, in particular those with a deletion (a mutation where part of the dystrophin gene is missing) spanning exons 52, 45-52, 47-52, 48-52, 49-52 and 50-52. Read More...
Encouraging results on the successful completion of the first part of a clinical trial to skip exon 53 in boys with Duchenne muscular dystrophy have been reported at the SKIP-NMD Consortium meeting that took place in Sardinia from the 24-25 June 2015. Full report published here...
SKIP-NMD news article | SKIP-NMD a new Duchenne clinical trial starting | The SKIP-NMD website
HALL FARM COTTAGES, HORNING, NORWICH, NR12 8NJ. SATURDAY, 18TH AUGUST to SATURDAY 25TH AUGUST 2018. We are pleased to be able to offer our families another holiday in 2018 in these wheelchair friendly self-catering holiday cottages in Norfolk. You can find lots of information on their website www.hallfarm.com. Hall Farm Cottages are fully accessible. They are dog friendly (extra charge) and situated a short drive from Wroxham on the Norfolk Broads.
DFSG organises a number of accessible day trips from time to time. We have three in August this year to Beaulieu, Duxford and Chester Zoo.
The 'Le Fosso Trip' for 2018 has been booked for 26th May - 2nd June 2018 Enquiries to phillippa.farant@dfsg.co.uk
This is the second year that we attended the trip to Le Fosso with DFSG and what a week we had! Fantastic weather, meeting up with familiar faces and enjoying the hospitality of Mike and Hilary (oh, and yes, catching up with the animals!).
Willow is the only national charity working with seriously ill young adults aged 16 to 40 to fulfill uplifting and unforgettable Special Days that enable them and their families to reconnect and refocus on each other while enjoying an activity of their choosing. A day that will create memories they will all treasure forever. - See more at: www.willowfoundation.org.uk
Recently
Road Runner Motorhomes is a family run, Community Interest Company (CIC), offering disabled people the opportunity to hire a specially equipped, fully wheelchair accessible motorhome at affordable rates. Their aim is to make going on holiday both accessible and achievable for those with a disabled family member. The 4 berth motorhome features: entry via an electrically operated cassette wheelchair lift, a four point wheelchair tie-down system, a profiling bed, an overhead hoist with tracking from the profiling bed to a wet room and a 240 volt inverter to charge a wheelchair and/or run a Bi PAP.
Download the leaflet>>
