Breaking news in research

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  • Roche announces global compassionate use plan for risdiplam 

    14 January 2020

    The announcement means that doctors will be able to apply for the potential treatment on behalf of their patients with SMA Type I. Roche plan to expand access to people with SMA Type II later in the year.  

    Roche UK will operate this compassionate use plan until risdiplam has been approved via the Early Access to Medicines Scheme (EAMS).  This scheme, governed by the UK Medicines and Healthcare Products Regulatory Agency (MHRA), is designed to ensure people can access promising new medicines at the earliest stage.  

    Risdiplam is an oral drug that increases SMN protein levels, the protein absent in people with SMA. The drug works by targeting the SMN2 gene. It is currently an investigational medicine as it has not yet been approved in the UK or elsewhere.  

    Parents of children with SMA Type I should speak to their child’s doctor about gaining access to the treatment.  

    For more information you can read the community letter from Roche and the UK statement from Roche UK (via the SMA UK website), or get in touch with our Research Line 

  • Duchenne trial to extend to non-ambulatory boys and men

    8 January 2020

    Pharmaceutical company, Catabasis, and charity Duchenne UK have announced a partnership to study the drug, edasalonexent, in the non-ambulatory DMD population.

    Edasalonexent works by turning off an enzyme called NF-kB, which is known to be overactive in DMD. It has been shown to slow the progression of Duchenne and is currently being evaluated in a phase 3 trial in boys aged four to seven.

    The new study will evaluate the safety and efficacy of the drug in non-ambulatory boys and men and will be recruiting in the UK.

    Read the press release from Catabasis here.

  • Wave halts development of DMD drug

    17 December 2019

    Wave Life Sciences have announced the disappointing news that the development of the drug suvodirsen for DMD has been discontinued.

    They shared that the exon skipping drug did not ‘restore meaningful levels of dystrophin’ in people with DMD. Wave plan to share additional findings, which may inform future research.

    For more information, read Wave Life Sciences Press Release

  • Duchenne exon skipping drug approved by FDA

    13 December 2019

    Sarepta’s exon skipping drug, VYONDYS 53™ (golodirsen) has been approved by the Food and Drug Administration (FDA). The FDA regulates drugs in the USA.

    The drug is an antisense oligonucleotide (or molecular patch) that binds to exon 53 of the dystrophin gene and triggers exon skipping. It could be a potential treatment for about 8% of people with Duchenne muscular dystrophy (DMD).

    Read Sarepta Therapeutics press release here.

    Read about Sarepta’s ESSENCE study here.

  • SMA drug granted Priority Review by FDA

    26 November 2019

    Roche have announced that the U.S. Food and Drug Administration (FDA) have accepted the New Drug Application (NDA) and granted Priority Review for the drug risdiplam. We can expect a decision on approval from the FDA by 24 of May, 2020. Roche anticipate filing a Marketing Authorisation Application (MAA) to the European Medicines Agency (EMA) by the middle of 2020.

    For more information read the press release from Roche.

  • Promising results from SMA SUNFISH trial

    11 November 2019

    Roche have today announced positive news from Part 2 of its study. The trial evaluated the drug risdiplam in people aged two to 25 years with Type 2 or 3 spinal muscular atrophy (SMA). It showed the drug to be safe and effective in increasing muscle function.

    Data from the study will be presented at an upcoming medical congress.

    For more information, read the press release from Roche.

  • Roche discontinues anti-myostatin drug development for Duchenne

    8 November 2019

    On Wednesday, Roche Genentech announced the disappointing news in a letter to the Duchenne community. The drug, RG6206, targeted a protein called myostatin which is important in regulating muscle  size. In the letter, Roche shared that the drug is “highly unlikely to demonstrate clinical benefit.”

    Any families who are enrolled in the trial should speak to their study physician for more information.

  • Update on Vamorolone for treatment of Duchenne muscular dystrophy

    21 October 2019

    Santhera Pharmaceuticals has announced that the UK’s Medicines and Healthcare products Regulatory Agency (MHRA) has designated vamorolone as Promising Innovative Medicine (PIM) for the treatment of Duchenne. This is the first of several steps in the Early Access to Medicine Scheme (EAMS), which aims to give people living with debilitating conditions access to medicines that are not yet licensed.

    Vamorolone is a steroid-like drug that is thought to have fewer side effects than current steroid treatments for Duchenne. A placebo-controlled phase 2b trial comparing vamorolone to prednisolone is currently recruiting in the UK.

    You can read the press release from Santhera Pharmaceuticals here.

  • Duchenne trial open for recruitment in UK

    11 October 2019

    A phase 2b trial testing vamorolone is now recruiting at six UK sites (Newcastle, Glasgow, Liverpool, Leeds, Birmingham and London). Vamorolone is a steroid-like drug that has fewer side effects than current steroid treatments for Duchenne muscular dystrophy. More information about the trial and contacts at each trial site can be found on

    For more information, read this press release from the VISION-DMD research group.

  • New study investigating edasalonexent for dysferlinopathy

    27 September 2019

    Pharmaceutical company, Catabasis, and American charity Jain Foundation have announced a preclinical research collaboration to study edasalonexent in dysferlinopathy (LGMD 2B). Edasalonexent works by turning off an enzyme called NF-kB, which is known to be overactive in many neuromuscular conditions, including dysferlinopathy and Duchenne muscular dystrophy. The drug has been shown to slow the progression of Duchenne and is currently being evaluated in a phase 3 trial.

    The new study between Catabasis and Jain Foundation will evaluate the potential for edasalonexent as a treatment for dysferlinopathy by testing it in a mouse model. Results from this preclinical study are expected in the first half of 2020.

    For more information, read this press release.

  • Acceleron stop development of ACE-083 for FSHD

    17 September 2019

    Acceleron Pharma has announced topline results from its phase 2 trial testing ACE-083 in adults with facioscapulohumeral muscular dystrophy (FSHD). Although the drug increased the size of the muscles it was injected into, this did not translate into a clinical benefit i.e. there was no improvement in muscle strength or function. Unfortunately this means that Acceleron is discontinuing development of ACE-083 for FSHD. Although this is disappointing news, the learnings from this trial are very valuable to the muscular dystrophy field and will help in designing future trials for FSHD.

    For more information, read Acceleron’s press release.

  • Results from vamorolone trial published

    28 August 2019

    Results from a six-month study testing vamolorone in boys with Duchenne have been published in the academic journal, Neurology. Vamorolone is an anti-inflammatory drug that could be an alternative to steroids. The study showed that vamorolone was safe and improved muscle function in a dose-dependent manner.

    Vamorolone is currently being tested in a global phase 2b trial called VISION-DMD, which has UK sites including London, Newcastle, Liverpool, Glasgow and Leeds (Birmingham is not yet open for recruitment). Eligibility criteria and contact details for UK sites can be found on

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