Breaking news in research

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  • Update on Solid’s DMD gene therapy trial

    14 November 2018

    Solid Biosciences has announced two additional boys have been dosed in its gene therapy trial – IGNITE DMD. Six boys have now been enrolled into IGNITE DMD in the USA; three have been treated and are currently doing well. The remaining three boys are part of a delayed-treatment control group.

    Solid is continuing to enrol boys into IGNITE DMD and expects to release preliminary trial results in the first quarter of 2019.

    For further information, please read Solid Biosciences’ press release.

  • LGMD 2E gene therapy trial starts in the USA

    08 November 2018

    Myonexus Therapeutics has initiated the first-ever gene therapy (MYO-101) trial for people with limb girdle muscular dystrophy type 2E (LGMD 2E). The trial is assessing two doses of the gene therapy in children with LGMD 2E between the ages of four and fifteen years old.

    The first child in the low-dose group was treated in October and the remaining participants for that group are expected to be treated by the end of 2018. Preliminary data is expected by early 2019.

    For more information, please read Myonexus Therapeutics’ press release.

  • Update on FSHD drug development programme

    01 November 2018

    Facio Therapies has shown that one of its lead compounds can reduce the levels of DUX4 in a mouse model. The company now plans to do further testing of its lead candidates before it can move to a clinical trial in 2021.

    For more information, please read Facio Therapies’ press release.

  • US charity receives funding for GNE myopathy gene therapy

    25 October 2018

    The US based charity, Neuromuscular Disease Foundation, has been awarded a challenge grant to support gene therapy research for individuals with GNE myopathy. The challenge grant requires the charity to raise $2.5million, which will be matched by a private foundation.

    Neuromuscular Disease Foundation is now seeking ways to raise this money and will be hosting a Gala for the Arts event next month.

    For more information, please read Neuromuscular Disease Foundation’s press release.

  • SMA gene therapy seeks marketing approval

    19 October 2018

    AveXis has announced it is seeking marketing approval for its gene therapy, AVXS-101, in Europe, United States and Japan for infants with SMA type 1.

    The European Medicines Agency (EMA) is currently evaluating AveXis’ Marketing Authorization Application and will determine its acceptability within the next couple of weeks. If accepted, the EMA will then have seven months to decide whether AVXS-101 should be approved in Europe.

    AveXis is continuing to evaluate AVXS-101 in clinical trials in children at different ages and types of SMA. The company plans to give an update on its clinical programme in May 2019.

    For further information please read AveXis’ community letter.

  • PTC announces long-term data on Duchenne drug

    08 October 2018

    PTC Therapeutics recently presented positive preliminary data on the long-term clinical benefit of Translarna at the World Muscle Society conference. Data collected from 216 treated children showed that some boys were able to walk up to five years longer compared to untreated children (based on natural history data).

    PTC Therapeutics has been working in partnership with TREAT-NMD to collect this information through the STRIDE registry. No long-term safety concerns of Translarna were reported.

    For further information pleases read PTC Therapeutics’ press release.

  • Update from X-MTM gene therapy trial

    5 October 2018

    Today at the World Muscle Society conference, Audentes Therapeutics announced new data from its ASPIRO study testing a gene therapy for X-linked myotubular myopathy (X-MTM). Eight children have been enrolled to date; six have received a low dose of the gene therapy, one received a higher dose and one has not yet been treated (to act as a control). All treated children continue to show improvements in respiratory and neuromuscular function and no new safety issues have been reported since the company’s update in May 2018. Three children no longer require any ventilation support, which is “an unprecedented outcome in children with a congenital myopathy who have been ventilated from birth”.

    Audentes also announced that it plans to hold initial discussions with the US Food and Drug Administration (FDA) and European Medicines Agency (EMA) beginning in the fourth quarter of 2018.

    For more information, please see Audentes’ press release.

  • Update on PTC’s SMA trials

    03 October 2018

    PTC Therapeutics has released preliminary data from its ongoing clinical studies, FIREFISH and SUNFISH. These studies are investigating whether RG7916 (risdiplam) could be a potential treatment for spinal muscular atrophy (SMA).

    So far, the FIREFISH study has shown that infants with Type 1 SMA treated with RG7916 have reached new developmental milestones (e.g head control and sitting). The SUNFISH study – which is focussed on people with Type 2/3 SMA – has also shown that RG7916 can improve motor function.

    No severe adverse events have been reported to date, suggesting that the drug is safe and well-tolerated.

    For further information please read PTC Therapeutics’ press release.

  • Catabasis starts its phase 3 trial

    25 September 2018

    Catabasis Pharmaceuticals has announced it has started its Phase 3 trial (POLARISDMD) to test edasalonexent in boys with Duchenne. The global trial will initially start recruitment in the United States. Additional clinical sites, including ones in Europe, are expected to open early year. Preliminary results from the trial are expected in the second quarter of 2020.

    For further information please read Catabasis’ newsletter and press release.

  • FDA lifts ban on Duchenne gene therapy trial

    24 September 2018

    The US Food and Drug Administration (FDA) has lifted its clinical hold on Sarepta’s Duchenne gene therapy trial. This hold was recently imposed by the FDA due to manufacturing issues. The company has now addressed this and plans to restart its gene therapy clinical program.

    The company will also meet with the FDA to discuss the possibility of starting a pivotal Duchenne gene therapy trial by the end of 2018. Data from this trial would be used to seek marketing approval from the FDA.

    For more information please read Sareta’s press release.

  • Update on FSHD drug development programme

    11 September 2018

    Facio Therapies has announced that it has selected several compounds as lead candidates for its FSHD drug development programme. The company will now further evaluate these compounds in the laboratory before selecting one or two for testing in clinical trials. Facio currently envisages its first clinical trial will start in 2021.

    For more information, please read Facio Therapies’ press release.

  • Myasthenia gravis drug moves to a phase 3 trial

    06 September 2018

    Argenx has announced the first person has been dosed in its phase 3 trial to test efgartigimod (ARGX-113) in individuals with the autoimmune condition, generalized myasthenia gravis (gMG). Efgartigimod is an antibody that blocks part of the body’s immune response. This trial will be recruiting approximately 150 people with gMG across Europe, United States and Japan. Data from this trial will be used to seek marketing approval of the drug.

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

  • Pfizer discontinues myostatin drug for Duchenne

    31 August 2018

    Pfizer has announced that it is terminating its clinical trials testing domagrozumab (PF-06252616) in boys with Duchenne. Domagrozumab is a drug that blocks the myostatin protein. Unfortunately the results from Pfizer’s trials showed that domagrozumab did not improve muscle function. Any families who are enrolled in the trial should speak to their study physician for more information.

    For more information, read Pfizer’s press release

  • WAVE receives FDA designations for Duchenne drug

    17 August 2018

    WAVE Life Sciences has announced that the US Food and Drug Administration (FDA) has granted Orphan Drug and Rare Paediatric Disease designations to its exon skipping drug, WVE-210201. These designations will give WAVE certain benefits that will help with the development of WVE-210201, and potentially WAVE’s future drugs.

    A phase 1 clinical trial  is currently testing the safety and efficacy of WVE-210201 in boys with Duchenne. Data from this trial is expected later on this year.

    For more information, please read WAVE Life Sciences’ press release.

  • Update from myotubular myopathy trial

    07 August 2018

    Audentes Therapeutics has announced additional interim results from the first three treated children in its ASPIRO study. Muscle biopsies taken at the 24 week time point have shown increased levels of the myotubularin protein as well as improvements in the overall health of the muscle. No new safety concerns have been reported.

    The company also announced that a higher dose of therapy will be administered to the next group of participants in the coming weeks.

    For more information, please see Audentes’ press release and community letter.

  • Mallinckrodt starts Duchenne trial

    03 August 2018

    The first participant has enrolled into Mallinckrodt Pharmaceuticals’ phase 2 trial testing MNK-1411 as a potential treatment for Duchenne. The drug has been developed to target muscle inflammation and this trial will assess its safety and efficacy. The study will enrol approximately 130 boys aged between 4 and 8 years old in the US, Belgium and Spain.

    The European Medicines Agency has granted MNK-1411 Orphan Medicinal Product designation. This will give Mallinckrodt certain benefits that can help with the development of the drug.

    For more information please read Mallinckrodt’s press release.

  • PTC highlights clinical benefit of deflazacort in Duchenne

    25 July 2018

    PTC Therapeutics has published data highlighting the clinical benefit of deflazacort. The company analysed functional data (e.g. walking ability and stair climbing) of the 114 boys who were in the control group during the ACT DMD Translarna trial. About half of these boys were taking deflazacort and half were taking prednisone as part of standard care. PTC’s analysis showed that the boys taking deflazacort had a slower functional decline over 48 weeks than those taking prednisone.

    It’s important to remember that the ACT DMD trial was primarily focussed on demonstrating the effectiveness of Translarna, not deflazacort or prednisolone. Therefore further research is required to confirm which steroid is better.

    For further information please see PTC’s press release and scientific publication.

  • New artificial intelligence company focuses on Duchenne

    20 July 2018

    Insilico medicine and A2A Pharmaceuticals have announced they have formed a new company – Consortium.AI – which will focus on identifying potential treatments for Duchenne. Both companies specialise in using complex computer programmes to design and identify new drug targets for a range of conditions. By combining their expertise, they hope to drive the development of new drug compounds for Duchenne.
    For information, please read Insilico medicine’s press release.

  • Positive data from recent Translarna trial

    10 July 2018

    PTC Therapeutics has released data from its recent trial testing Translarna in boys between two and five years old. Whilst the study was small, it did show the drug was well tolerated and the boys improved in their timed function tests (e.g. stair climbing and rising from the floor).

    Data from this trial encouraged the Committee for Medicinal Products for Human Use to recommend the expansion of the drug’s current licence to include boys as young as two.

    For more information please read PTC’s press release.

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