Earlier this year, Professor Laurent Servais and his team designed and launched the spinal muscular atrophy (SMA) new-born screening study at the MDUK Oxford Neuromuscular Centre. This study aims to identify SMA in new-borns, in order to access treatment as early as possible. This is essential, as treating SMA before the onset of symptoms provides the best chances for long and healthy lives.
Through our research into better drugs and treatments, and our involvement in the NICE and the SMC appraisal process, we have been able to help individuals living with muscle-wasting conditions access better treatments and improve their quality of life.
Earlier this year, a team led by researchers at Newcastle University conducted a study to shed light on whether the approved Standards of Care for spinal muscular atrophy (SMA) were being upheld in the UK.
SMA is a rare muscle-wasting condition characterised by the wasting of motor neurons as a consequence of missing the gene SMN1
Many people living with neuromuscular conditions suffer greatly from fatigue. Lack of understanding from doctors and wider society make this symptom particularly challenging.
It’s estimated that 70% of people living with muscle-wasting conditions also suffer from fatigue, however there is a vast disconnect between this and support offered.
Abby, 30, and her mum Gillian, 51, are taking on an incredible fundraising challenge for their friend Ella, who is a manifesting carrier of Duchenne muscular dystrophy.
The mother and daughter team are running a half marathon every month this year to raise at least £700 for MDUK. They are over halfway to their fundraising target, which will help support Ella through the TeamElla Family Fund at MDUK.
In February, we revealed that there are now 110,000 people living with muscle-wasting conditions in the UK, compared to the earlier figure of 70,000. Now, MDUK is looking onward at how this new data will contribute to its campaigning efforts.
On Saturday, 25 June, Italfarmaco Group announced positive data from the completed placebo-controlled Phase 3 trial involving a drug called Givinostat. Givinostat is a drug from a family of molecules called HDAC inhibitors that aims to restore muscle regeneration, increase muscle mass, and reduce inflammation and scar tissue accumulation in boys with Duchenne MD.
MDUK’s very own Dani Poulter will be taking on the tough Pedal, Paddle, Peak challenge to raise £2,500 for her brother who lives with Duchenne.
Along with her three best friends, the team will tackle a 30-mile cycle through the hilly Lake District, followed by a 2-mile paddle and then climb England’s second highest peak at the event on 2 July 2022.
On Tuesday 24th May, MDUK attended the first hybrid All-Party Parliamentary Group roundtable meeting since the pandemic began.
Having a muscle-wasting condition often means adjusting to a new and unexpected reality, and many people struggle with feeling lonely as they process this. But meeting other people in similar situations and talking about the things that matter to you can really help.
With growing interest from several pharmaceutical companies around clinical trials for FSHD, FSHD Europe is funding the John Walton Muscular Dystrophy Research Centre to create, conduct and analyse a survey looking into patient experience.
On 29 March, Genetic Alliance UK hosted a roundtable meeting at Great Ormond Street Hospital bringing together people from the rare disease community and the Secretary of State for Health and Social Care, Sajid Javid, to discuss health inequalities, research, and innovation.
Inspired by their favourite superheroes from the Avengers, Oscar and Seb Spink will be climbing the equivalent of the Stark Tower over 30 days across April; that’s 130 flights of stairs!
While many people take walking up the stairs for granted, Oscar and Seb live with facioscapulohumeral muscular dystrophy (FSHD), a progressive muscle-wasting condition, which will make the challenge incredibly difficult as they find it exhausting to walk, have a lack of balance and shortened leg muscles.
Kerry Spink, their mum, said:
Two weeks ago, we launched our Northern Ireland Shining a Light report, the final in our series that explores the effect the pandemic has had on people living with muscle-wasting conditions and their access to specialist neuromuscular services.
Anjali Solanki, 30, lives with congenital muscular dystrophy. She tells us how it affects her body – and mind.
