Breaking news in research

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  • FDA accepts application for exon-skipping DMD drug

    26 August 2020

    The US Food and Drug Administration (FDA) has accepted an application from Sarepta Therapeutics for accelerated approval for Casimersen (SRP-4045), a potential treatment for Duchenne muscular dystrophy.

    The drug, which would be marketed as AMONDYS 45 in the States, uses exon-skipping technology to skip exon 45 of the Duchenne gene. This is a technique that involves small pieces of DNA called ‘molecular patches’ which mask a portion of a gene where there is a mistake or mutation.

    A phase three study is under way to evaluate the efficacy and safety of Casimersen. Sarepta Therapeutics has already submitted some data from this study to the FDA, showing a statistically significant increase in dystrophin production in patients compared to those who have not received treatment or have received a placebo. The study is ongoing, and the FDA has provided a regulatory action date of 25 February 2021. 

    For more information, read Sarepta Therapeutics’ press release.

  • Promising updates on PTC Therapeutics’ trials for SMA drug

    17 June 2020

    PTC Therapeutics has shared an update on two trials of Risdiplam, an experimental drug for the treatment of spinal muscular atrophy (SMA). The drug increases SMN protein levels, the protein absent in people with SMA. The drug works by targeting the SMN2 gene.

    The SUNFISH trial investigated the effect of Risdiplam in children and adults with SMA Type 2 or 3. Recent data show Risdiplam improved motor function after 24 months of treatment compared to natural history data.

    JEWELFISH studies people with SMA aged six months to 60 who have previously been treated with other SMA therapies. Results showed that Risdiplam led to rapid and sustained increases in SMN protein levels.

    For more information, read PTC’s press release.

  • Positive news from Sarepta LGMD2E gene therapy trial

    10 June 2020

    Sarepta Therapeutics has shared an update on two groups of patients who have received SRP-9003, as part of a study into its gene therapy for limb girdle muscular dystrophy Type 2E (LGMD2E).

    SRP-9003 is an experimental AAV gene therapy that codes for the full-length beta-sarcoglycan protein and has been shown to increase gene expression – the process in which the instructions in our DNA are converted into a functional product, such as a protein – in muscle.

    It’s a promising step forward in the study of gene therapy for LGMD2E and provides information relevant to the company’s other gene therapy studies, such as Duchenne muscular dystrophy.

    For more information, read Sarepta’s press release.

  • Acceleron discontinues drug development for CMT

    10 March 2020

    Today, Acceleron announced topline results from its Phase II ACE-083 trial for Charcot-Marie-Tooth Disease. 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 CMT.

    ACE-083 is a drug that inhibits a family of proteins that negatively regulate muscle growth (including myostatin).

    For more information, read Acceleron’s press release.

  • First CNM patient receives anti-sense drug

    5 March 2020

    Dynacure have announced that the first person in its Phase I/II trial, Unite-CNM, has received the drug DYN101. This is the first time that anyone with centronuclear myopathy (CNM) has received an anti-sense drug.

    DYN101 is an antisense drug designed to switch off DNM2, a gene that is overactive in CNM.

    For more information, read Dynacure’s press release.

  • 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.

  • 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.

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