Our news page includes a range of articles such as positive news stories from local and national media, opportunities for you to participate in surveys and consultations relevant to people living with Duchenne and reports from our days out (when restrictions are lifted).
The DMD Hub News page from Duchenne UK has all the latest on clinical trials, medical reports and research developments.
WORLD DUCHENNE DAY September 7th 2021
Always an important day in the Duchenne community calendar, this year the theme is focused on Adult Life. So many more of our young people with this condition are living into adulthood and they are an inspiration to us all. Look out for information, videos and photographs from the World Duchenne Organisation.
Making the unseen seen (29 July 2021)
At the beginning of the Covid-19 pandemic of early 2020, a group of concerned advocates came together to take Action for Rare Disease Empowerment (ARDEnt). The ARDEnt group’s aim was to shed light on the unseen impact of the pandemic on people living with rare conditions in order to protect the existing services for people living with rare conditions and lessons can be learned. View the report here: Rare disease and the lessons learned from the COVID-19 pandemic
first UK patient enrolled in DMD gene therapy trial at DMD Hub site (13 May 2021)
We are excited to share the recent news from Duchenne UK, the first UK patient enrolled in a gene therapy trial.
Read all about it here: first UK patient enrolled in a gene therapy trial.
Word Duchenne Organization (6 May 2021)
Today The Duchenne Family Support group is proud to announce that we are now part of the World Duchenne Organisation.
The World Duchenne Organization is a worldwide organization dedicated to finding a cure and viable treatments for DMD, to promoting good standards of care, and to inform parents around the globe.
There is a compelling need to ensure that wherever they are in the world, the children suffering from this disease can benefit from a standard of care that is informed by the best practice of the best clinicians from all over the world. WDO believes that when parents shoulder responsibility and work together around the globe they will have a greater impact on the future and lives of the patients suffering from this disease. Not only change the lives of their own children but of all patients.
It is important that the needs of the Duchenne families are the starting point for initiatives concerning them. There is a lot to win if their experience and expertise is utilized. People with disabilities and diseases know what it means to have this condition. It means they will bring
in a different perspective to caregivers, researchers or policymakers. Their questions and needs are based on their own experiences, interests and vision.
Read more about the launch here:Duchenne family support group joins global community.
Treatment for Duchenne Muscular Dystrophy
accepted by Scottish Medicines Consortium (12 April 2021)
- A drug called Translarna can help treat an underlying genetic cause of Duchenne muscular dystrophy
- Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group, and Duchenne UK appeared before the Scottish Medicines Consortium in March
- The Scottish Medicines Consortium has accepted the drug for use on NHSScotland over the next three years
- The drug company must now submit a plan to Scottish Government before it can be given on NHSScotland
A DRUG that can treat an underlying genetic cause of a muscle-wasting condition has been accepted for use on NHSScotland, it was announced today (12 April). This will pave the way for the drug to be made available across the next three years, through a system called the ‘ultra-orphan pathway’.
Today’s exciting news comes after Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK appeared before the Scottish Medicines Consortium (SMC) last month, following an earlier joint submission to accept Translarna for use on NHSScotland.
The drug can help treat patients with an underlying genetic cause of Duchenne muscular dystrophy (DMD), called nonsense mutations. This condition primarily affects boys and causes muscles to weaken and waste over time, with most of those affected needing to use a wheelchair by the age of 12. The life-limiting disease also causes other severe health problems to the heart and breathing muscles.
In today’s announcement, the SMC said it accepts that Translarna meets the definition of what is known an ultra-orphan medicine, used to treat extremely rare conditions. It means that eligible DMD patients aged two or over and who are able to walk should be able to have the treatment on NHSScotland under the ultra-orphan pathway for at least the next three years. This is provided that the company manufacturing Translarna submits a data collection plan to the Scottish Government.
The plan should outline how further data, including evidence outlining the experiences of patients and carers, will be collected over the next three years. At the end of this period, the drug company should provide the SMC with an updated submission for reassessment. The SMC will then review the evidence before deciding if Translarna can be routinely used on NHSScotland.
In today’s announcement, the SMC acknowledged that Translarna “may allow affected children to retain the ability to walk for longer, potentially leading to increased independence”. More information can be read here.
Provided that the drug company has submitted its plans to the Scottish Government, Translarna will be given in addition to the current standard treatments on NHSScotland. Families and individuals should speak with their clinician to find out more about eligibility. More information will be shared with relevant patient groups accordingly.
A spokesperson on behalf of the four charities said: “Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK are delighted the SMC has accepted Translarna for use on the ultra-orphan pathway for the next three years. Today’s announcement is excellent progress in our bid to help those with Duchenne muscular dystrophy access appropriate treatment in Scotland, especially because every day is a race against time to slow down the condition. We believe that the physical and mental health benefits of Translarna have the potential to improve lives for so many families living with Duchenne. The four charities are therefore very much looking forward to hearing the drug company’s plans going forwards, so that patients can start to access treatment as quickly as possible.”
Four charities call on Scottish Medicines Consortium to approve treatment for Duchenne Muscular Dystrophy (2 March 2021)
- Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group, and Duchenne UK are asking for the SMC to approve a drug called Translarna
- It is the first drug that can help treat cases of an underlying cause of Duchenne muscular dystrophy
A group of charities is urging for the approval of a drug that can treat an underlying genetic cause of a life-limiting muscle-wasting condition.
Duchenne muscular dystrophy (DMD) primarily affects boys and causes muscles to weaken and waste over time, with most of those affected needing to use a wheelchair by the age of 12. The life-limiting condition also causes other severe health problems to the heart and breathing muscles. The drug Translarna, however, can help treat cases of a version of Duchenne that is caused by nonsense mutations.
Today (Tuesday March 2), Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK are appearing before the Scottish Medical Consortium (SMC) to represent patients who could benefit from Translarna and to seek its approval for use on the NHS in Scotland.
In its joint submission to the SMC ahead of today’s meeting, the charities outlined evidence from a survey conducted earlier this year. They provided evidence that highlights clear improvements to quality of life reported by those receiving the drug. Significantly, many families of children receiving Translarna say they retained the ability to walk for longer than expected, and that this gave their child greater independence to complete daily tasks and take part in activities with friends. Families also reported huge behaviour improvements at school and home, as well as positive mental health outcomes.
If SMC approves the submission, Translarna would be the first treatment routinely available through the NHS in Scotland that addresses an underlying genetic cause of Duchenne muscular dystrophy.
One parent who took part in the survey, and whose thoughts were included as evidence in the submission, explained: “For our son knowing that he has a medication to help his muscles is a massive boost to him. We believe that every time we receive our Translarna it lifts his spirits in this fight. We never for a moment take for granted how lucky we are to be receiving this drug and feel it’s something in our corner as we face this battle head on.”
If approved, Translarna would be given in addition to the current standard treatments on the NHS in Scotland.
A spokesperson on behalf of the four charities said: “Every day is a race against time to slow down Duchenne muscular dystrophy, a progressive condition that robs children of their ability to walk and their independence. Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK are pleased to have represented the voices of patients in our joint submission to the SMC. We believe our submission highlights both the physical and mental health benefits of Translarna, a drug that has the potential to improve lives for so many families living with Duchenne. We very much look forward to hearing the SMC committee’s thoughts on our submission.”
Gene therapy recruitment statement (24 February 2021)
The DMD Hub is coordinating a 1-year pilot trial to scope and, if possible, implement a nationally agreed process for fair and equitable recruitment to DMD clinical trials in the UK.
However, with sites planning to start screening patients for DMD gene therapy trials in quarter 1 of 2021, it is clear that this process will not be able to be implemented in time. Therefore, the DMD Hub Principal Investigators (PIs) have agreed an interim statement to update the patient community on the plans for recruiting to gene therapy trials, as follows:
“Clinical trial sites running gene therapy trials will follow established local processes for recruitment with the aim of also recruiting patients, whose
primary care is not provided at one of the recruiting trial sites. However, with the specific challenges of gene therapy trials and travel restrictions imposed by COVID, it is not yet clear when recruitment of patients, whose primary care is not managed by the recruiting site, will be possible. Sites will use their best judgement to minimise risks for patients and optimise patient screening and recruitment”.
Recruitment of patients into clinical trials will ultimately be driven by the objective to give a trial the best chance to succeed. Recruitment is based on strict inclusion and exclusion criteria, a stringent schedule of investigations and a pre- selection of patients that best comply with these requirements.
It is expected that up to 3 clinical trials sites (Newcastle, Great Ormond Street and Alder Hey) will be recruiting a limited number of patients for the first gene therapy trial, Pfizer – DMD C3391003 (https://dmdhub.org/trials/pfizer-dmd-c3391003-gene-therapy/), but additional UK sites may join either in this study or other upcoming gene therapy trials in DMD. Updates will be available on the DMD Clinical Trial Finder.
Patients are encouraged to express their interest in participating in gene therapy clinical trials to their neuromuscular specialist who will collect relevant information and share anonymised details of potentially eligible patients with the recruiting sites. The DMD Hub will work with trial and care sites to help coordinate recruitment and to keep patients informed.
Patients who are registered on the GOSH central database, which includes out of area patients, will be considered for recruitment at GOSH via a locally established procedure.
COVID vaccines for people with Duchenne (23 January 2021)
Some of our families have reported that their family members with Duchenne have been offered COVID vaccines at centres that are some distance from their homes – for example, involving a journey from the south coast to London. Some are choosing to travel, but others are concerned. If you receive an appointment that involves a journey you are uncomfortable with, do check with your consultant. In most cases, the vaccinations at larger centres are being offered as an additional option for those who are able to access this, and people will also be offered a vaccine via their local pathway, such as their GP.