Breaking news in research

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  • More positive news from SMA SUNFISH trail

    6 February 2020

    PTC Therapeutics have shared the clinical data presented at the International SMA Europe Conference in France.

    The study showed improvement in muscle function in people with SMA type 2 and 3 when treated with risdiplam over a period of 12 months. Children aged 2-5 years, showed improvement compared to those not receiving the drug. In people older than 5, the progression of the condition stabilised.

    The company will be presenting the data in a conference call for investors at 1pm today. It can be accessed by dialing (973) 935-8152 five minutes before the start of the call and entering the passcode 7757508.

    For more information, read PTC’s press release.

  • FSHD drug granted orphan drug status by FDA

    29 January 2020

    Fulcrum Therapeutics has announced that the United States Food and Drug Administration (FDA) has granted Orphan Drug designation (ODD) to losmapimod for the treatment of patients with FSHD. This designation gives Fulcrum certain financial benefits that will help to lower the cost of developing the drug.

    Losmapimod has been shown to “switch off” DUX4 in cells originating from people with FSHD. The safety and efficacy of the drug is currently being tested in a Phase 2 clinical trial. The results from this trial are expected later in 2020. 

    For more information, please read Fulcrum’s press release.

  • Promising results from SMA FIREFISH trail

    23 January 2020

    Roche have announced positive results from Part 2 of its study. The trial evaluated the drug risdiplam in babies aged one to seven months old with Type 1 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 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.

  • 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.

  • 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.

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