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Latest announcements in research for all muscle-wasting conditions.
Raxone progresses to next stage of Early Access to Medicines Scheme
23 December 2016
Santhera Pharmaceuticals today announced that Raxone is suitable for the second stage of the UK Early Access to Medicines Scheme (EAMS). The EAMS process aims to give patients access to promising new drugs like Raxone that are not yet licensed.
Santhera has applied to the European Medicines Agency (EMA) for a licence that will allow people with Duchenne muscular dystrophy who are not taking steroids to have access to Raxone. This is because – at this point in time – Santhera only has clinical trial results for people not taking steroids. The company is investigating whether Raxone could also benefit those taking steroids in a study called SIDEROS. This study will soon be recruiting in the UK (click here for more information).
Nic Bungay, Director of Campaigns, Care and Information at Muscular Dystrophy UK, commented: “We welcome this very encouraging news that Raxone has been considered suitable for the second step of the EAMS process, especially as this is the first muscular dystrophy drug to reach this stage. This demonstrates that the introduction of the EAMS, which Muscular Dystrophy UK had called for, could help to fast track emerging treatments.”
For more information, read Santhera’s press release.
Gene therapy trial for SMA type 2 to start in 2017
22 December 2016
American gene therapy company, AveXis, is planning a trial testing AVXS-101 in people with SMA type 2. This trial is expected to start in the second quarter of 2017.
AVXS-101 is an AAV-based product that aims to replace the defective SMN1 gene in people with SMA. It is currently being trialled in infants with SMA type 1 and has shown promising results so far. AveXis is also planning to initiate another SMA type 1 trial in 2017.
For more information, read AveXis’ press release.
EMA begin to review Exondys51
20 December 2016
Sarepta Therapeutics today announced that its Marketing Authorisation Application (MAA) for Exondys51 (eteplirsen) has been validated by the European Medicines Agency (EMA). The MAA is for a broad licence covering all people with Duchenne muscular dystrophy who are amenable to exon 51 skipping.
This validation from the EMA acknowledges that the MAA has been submitted and that the review process has begun. The standard review period is 210 days (plus additional time for the applicant to respond to questions from the EMA). Muscular Dystrophy UK is working with families and fellow patient-groups to ensure a fast approval.
For more information, read Sarepta’s press release.
Phase 2 trial for dermatomyositis launched in UK
7 December 2016
Idera Pharmaceuticals has recently launched a phase 2 trial for adults with dermatomyositis (DM). The placebo-controlled trial will assess whether IMO-8400 can improve DM-related skin symptoms and muscle weakness and whether the drug can be given safely. IMO-8400 is an anti-inflammatory drug that blocks the activity of a specific protein involved in the body’s immune response.
The UK trial sites are King’s College London (Dr Robert Cooper), University College London (Dr Patrick Gordon) and Aintree University Hospital, Liverpool (Dr David Isenberg). They will be open for recruitment end of December/start of January. If you are interested in taking part in the trial, please email email@example.com or visit the Idera website for more information.
Summit opens recruitment into PhaseOUT DMD at US trial sites
18 November 2016
Summit Therapeutics has announced this week its first enrolments of people with Duchenne muscular dystrophy into PhaseOUT DMD at trial sites in the United States. Enrolment and dosing of people into PhaseOUT DMD at UK trial sites is ongoing. PhaseOUT DMD is a phase 2 clinical trial investigating the utrophin upregulator, Eutrozomid, as a potential treatment for Duchenne muscular dystrophy. Read Summit’s press release here and read more about the trial here.
SMA workshop to be broadcast live
10 November 2016
The European Medicines Agency (EMA), SMA Europe and the TREAT-NMD network are holding a one-day workshop on spinal muscular atrophy (SMA). The workshop will convene key stakeholders – patients, patient-representatives (including Muscular Dystrophy UK), doctors, industry representatives, researchers and regulators – to take stock of the latest scientific developments in the area and discuss ways of developing therapies for the treatment of SMA. The workshop will take place at EMA’s premises in London tomorrow, starting at 9am. For a copy of the agenda and to broadcast the workshop live, click here.
Update from Sarepta
8 November 2016
Sarepta Therapeutics has today provided the Duchenne muscular dystrophy community in Europe with an update on its exon skipping programmes. The company is still planning to submit its Marketing Authorisation Application (MAA) for eterplirsen (Exondys51) to the European Medicines Agency (EMA) by the end of 2016. Read the full update here.
Nusinersen improves motor function of children with SMA type 2
7 November 2016
Biogen and Ionis Pharmaceuticals today reported positive results from the interim analysis of their phase 3 CHERISH trial. This trial is evaluating SPINRAZA (nusinersen) in children with later-onset SMA (consistent with type 2). The analysis showed that children receiving the drug had a significant improvement in motor function compared to those in the control group.
The CHERISH trial will now be stopped and all participants allowed to transfer to the open-label SHINE extension study. This has no control arm so all participants have access to SPINRAZA. Biogen is already preparing to launch SPINRAZA in the US possibly as early as the end of 2016 or first quarter of 2017.
For more information, read the companies’ press release.
FDA give feedback on SMA gene therapy trial
4 November 2016
US gene therapy company, Avexis, recently announced that it has met with FDA officials and received constructive feedback about its AVXS-101 development programme for SMA type 1. The company plans to initiate a single-arm phase 1 study in the first half of 2017. There will not be a placebo group in this study so the resulting data will be compared against natural history data.
The FDA requested to be briefed on the results once the study is completed: “We strongly recommend that at the completion of the study, you request an end-of-Phase 1 meeting to evaluate the adequacy of data to support future product development, including a discussion of whether the data from the Phase 1 study might provide the substantial evidence necessary to support a marketing application.”
For more information, read Avexis’ press release.
Update on mitochondrial disease trial
3 November 2016
Khondrion recently announced that it has completed recruitment for its phase 2 KHENERGY study. KHENERGY is assessing the safety and effectiveness of an anti-oxidant drug called KH176, which could be a potential treatment for people living with mitochondrial disease. The first results of the study are expected to be reported in the middle of 2017. For more information, read Khondrion’s press release.
Thymectomy beneficial for myasthenia gravis
31 October 2016
A recent study in the New England Journal of Medicine has found that surgical removal of the thymus gland (thymectomy) provides significant benefit to people with myasthenia gravis (MG) who do not have a thymus tumour. Participants that underwent thymectomy (in addition to corticosteroid therapy) had fewer symptoms compared with those who took corticosteroids alone. The thymectonomy group also had a reduced need for corticosteroids and other immunosuppressants and had fewer hospitalisations over the three-year study period. Although it is not uncommon for people with MG to undergo thymectomy, this is the first randomised placebo-controlled study to support its use in clinical practice. For more information, listen to the Neurology Today podcast or read this press release.
EMA begin to review nusinersen
29 October 2016
Biogen announced yesterday that its Marketing Authorisation Application (MAA) for nusinersen has been validated by the European Medicines Agency (EMA). This acknowledges that the submission process is complete and that the review process has begun. Nusinersen has Accelerated Assessment status, which can reduce the overall review time. It has also been granted a similar status in the US by the Food and Drug Administration (FDA). Biogen intends to market nusinersen under the brand name Spinraza. For more information, read the company’s press release.
Regulatory update on Translarna
26 October 2016
PTC Therapeutics recently met with the European Medicines Agency (EMA) to discuss the annual renewal of its conditional licence for Translarna. The EMA made a request for more information on the efficacy and risk-benefit profile of the drug (read the full story here).
Unfortunately PTC is still having difficulties with seeking approval for Translarna in the US. The Food and Drug Administration (FDA) rejected the company’s licensing application in February this year, which led to an official appeal. PTC has recently been informed that this appeal has been denied. The company now intends to escalate its appeal to the next supervisory levels of the FDA.
For more information, read the company’s press release.
Nusinersen application submitted to EMA
11 October 2016
Yesterday Biogen and Ionis provided an update to the SMA community about their Nusinersen development programme. Their Marketing Authorisation Application (MAA) was submitted to the European Medicines Agency (EMA) on Friday 7 October. They submitted all the data they have to date and are seeking a broad label for the treatment of all types of SMA. Nusinersen has been granted Accelerated Assessment, which can reduce the standard review time from 210 days to 150 days, however, this is an estimate and the timeline is largely driven by the dialogue between the regulators and the companies. For more information, read the companies’ full statement.
Translarna improves lung function
7 October 2016
PTC Therapeutics announced new data showing that Translarna could potentially benefit people with nonsense mutation Duchenne muscular dystrophy who are non-ambulatory (can no longer walk). It reported that people taking the drug had a slower loss of lung function than an external control group from a natural history study. Translarna is currently only available in the EU for those who can still walk. For more information, read the company’s press release.
Summit present new data on utrophin modulation research
7 October 2016
Summit Therapeutics presented preclinical data at the World Muscle Society conference held this week. It showed how automated image analysis software could be used to measure the amount of utrophin and other muscle proteins or biomarkers in patient muscle biopsies. Summit is likely to use this valuable tool in its PhaseOUT DMD trial, in order to assess the effect that Ezutromid has on the muscle. For more information, read the company’s press release.
Summit also showed that its second generation utrophin modulator, SMT022357, protected a mouse model of Duchenne muscular dystrophy from muscle damage within the skeletal muscle and diaphragm. This research was funded by the UtroDMD Alliance, of which Muscular Dystrophy UK is a member. Find out more about this project here.
Summit and Sarepta join forces
5 October 2016
Sarepta Therapeutics and Summit Therapeutics have partnered to advance the development of novel therapies for the treatment of Duchenne muscular dystrophy. They have agreed to share research and development costs related to Summit’s utrophin modulator pipeline. Sarepta will also have European licensing rights, which means that it can commercialise Summit’s utrophin modulators in Europe if regulatory approval is received.
Glyn Edwards, Summit’s Chief Executive Officer, said: “Sarepta Therapeutics has paved the way in the development of disease-modifying therapies for DMD with the first FDA-approved drug in this disease area, making them a strong strategic partner to support our utrophin modulator pipeline.”
Edward Kaye, Sarepta’s Chief Executive Officer, said: “Summit’s utrophin modulation technology represents a potentially promising approach to treat DMD, which may complement our current approach of exon skipping technology.”
For more information, read the companies’ joint press release.
Roche initiates phase 2 trials for SMA drug
5 October 2016
Roche Pharma has initiated phase 2 clinical trials testing RG7916 in people with SMA. RG7916 is an antisense oligonucleotide (or molecular patch) that alters the splicing of the SMN2 gene so that it produces more SMN protein. One trial (called Firefish) will be enrolling infants with SMA type 1 at sites in the US, Italy and France. The other trial (called Sunfish) will enrol participants aged 2-25 with SMA type 2 or 3 at sites in the US, Canada, Australia and some European countries (including the UK). For more information, read the company’s letter to the SMA community.
Sarepta and Catabasis team up to test combination therapy for Duchenne
3 October 2016
Sarepta Therapeutics and Catabasis Pharmaceuticals recently announced a joint research collaboration to explore a combination treatment approach for Duchenne muscular dystrophy. The companies will combine their expertise to test an exon skipping treatment (developed by Sarepta), together with Edasalonexent (formerly CAT-1004, developed by Catabasis) in a mouse model of the condition. Edasalonexent is a NF-kB inhibitor that has been shown to improve muscle regeneration and function in mouse models. It is currently in phase 1/2 clinical trial for boys with Duchenne muscular dystrophy in the US. For more information about the companies’ collaboration, read this press release.
Phase 3 Raxone study initiated
30 September 2016
Santhera Pharmaceuticals has started its phase 3 study (called SIDEROS) testing Raxone in people with Duchenne muscular dystrophy taking steroids. Raxone is an anti-oxidant that has already been shown to slow the rate of respiratory decline in those not taking steroids. The trial will recruit approximately 260 participants across the US and Europe. UK sites include Leeds and Newcastle, which are not yet recruiting but we will keep you updated as to when this changes. The European Medicines Agency (EMA) is currently reviewing Santhera’s marketing application for Raxone and is expected to give an opinion in the first quarter of 2017. Read the company’s press release.
Nusinersen to be filed for approval in coming weeks
29 September 2016
Biogen has recently announced that it will submit a Marketing Authorisation Application (MAA) for nusinersen to the European Medicines Agency (EMA) in the coming weeks. The company has already initiated regulatory filings with the US Food and Drug Administration (FDA). Read the company’s press release.
First baby born using mitochondrial donation IVF
27 September 2016
Doctors from the New Hope Fertility Center in New York have today announced that the world’s first baby has been born using mitochondrial donation IVF. The baby boy – now five months old – is said to be ‘doing well’. The doctors used a technique that is different to the one that is approved in the UK. As neither technique is approved in the US, the doctors carried out the procedure in Mexico, where there are no laws that prohibit it. This raises concerns about the safety and reproducibility of the procedure, particularly as the doctors have not yet published their findings. In the UK, appropriate controls and ethical regulations are in place for such procedures. Prof Sir Doug Turnbull of Newcastle University, who pioneered mitochondrial donation IVF in the UK, said: “There have been extensive discussions in the UK to ensure that families with mitochondrial disease get the best possible advice about their reproductive options and that any new IVF based technique is appropriately regulated and funded. This abstract gives very little information about the technique used, the follow up of the child or the ethical approval process.” Read the full story here.
Utrophin up-regulator fast tracked by FDA
26 September 2016
Summit Therapeutics has announced today that its lead utrophin up-regulator, Ezutromid, has received Fast Track Designation from the US Food and Drug Administration (FDA). This status helps speed up the development and regulatory review process of new drugs for serious health conditions. Ezutromid could be a potential treatment for Duchenne muscular dystrophy and is currently being trialled at five sites in the UK as well as in the US (read about the PhaseOUT DMD trial on Summit’s utrophin website). Read the company’s press release for more information on the Fast Track Designation.
Trehalose slows down progression of dysphagia in people with OPMD
19 September 2016
Bioblast Pharma has recently announced results of its phase 2 extension study for people with occulopharyngeal muscular dystrophy (OPMD). The study tested whether a natural sugar called trehalose (tradename Cabaletta) was safe and whether it had any beneficial effect on swallowing difficulties (dysphagia). The results showed that trehalose was generally safe and well-tolerated. Participants in the placebo (control) group showed a decline in their swallowing ability over the 12 months of the study, whereas those who received trehalose did not i.e. their dysphagia remained stable. Severe dysphagia can cause malnutrition and inhalation of food into the lungs, which can lead to pneumonia. Addressing this aspect of the condition could therefore provide invaluable health benefits as well as improvements in quality of life. Trehalose will now enter a larger-scale phase 2b trial that will take place in the US and Canada. For more information read the company’s press release.
Update on Expanded Access Programme for nusinersen
16 September 2016
Following many requests from families with a child with SMA type 1, the UK Principal Investigators of the ENDEAR trial have provided more information on the next steps for implementing a Expanded Access Programme (EAP) for nusinersen. Read their full statement here.
Summit launches utrophin modulation website
12 September 2016
Summit Therapeutics has launched a new online resource aimed at providing up-to-date information about its utrophin modulation programme and associated clinical trials. Glyn Edwards, Chief Executive Officer of Summit, said: “We are committed to broadening our relationship with the DMD community as we advance ezutromid and other utrophin modulators, which may have the potential to treat all patients with DMD.” The website address is www.utrophintrials.com.
Duchenne steroid alternative being trialled in the UK
7 September 2016
ReveraGen BioPharma has today announced that enrollment has begun for its phase 2a trial testing vamorolone (VBP15) in boys with Duchenne muscular dystrophy. Vamorolone is an anti-inflammatory drug that is similar to steroids but may have fewer side effects. Trial participants must be steroid-naïve (no current or previous treatment with steroids) and aged between 4-6 years old. The UK arm of the trial will take place at the Newcastle-upon-Tyne Hospitals NHS Trust. For more information about the trial, please visit http://vision-dmd.info/2a-trial-information/ or read the company’s press release.
Santhera receives FDA funding for congenital muscular dystrophy drug
5 September 2016
The US Food and Drug Administration (FDA) has granted Santhera Pharmaceuticals an award of $246,000 to support its ongoing phase 1 clinical trial testing Omigapil in children with congenital muscular dystrophy. The trial (called CALLISTO) is expected to be completed in early 2017. The FDA awards grants through the Orphan Products Grant Program to support the clinical development of medicines for rare diseases where no current therapy exists. For more information, read the company’s press release.
Anti-inflammatory drug receives Fast Track Designation for the treatment of Duchenne
30 August 2016
Synacthen (tetracosactide) is a man-made protein that is being developed by Mallinckrodt Pharmaceuticals to target inflammation in people with Duchenne muscular dystrophy. It has recently received Fast Track Designation from the US Food and Drug Administration (FDA). This will help in getting it to people with the condition earlier. For more information, see Mallinckrodt’s press release.
New Duchenne therapy receives Orphan Drug status
19 August 2016
Tivorsan Pharmaceuticals is developing a possible treatment for people with Duchenne or Becker muscular dystrophy called Biglycan (TVN-102). This has recently been granted Orphan Drug Designation by the US Food and Drug Administration (FDA), which will help get it to patients sooner. Biglycan is a protein naturally found in muscle that increases the amount of utrophin and other important muscle proteins. Tivorsan plans to initiate phase 1 clinical trials for Biglycan in 2017. Read the company’s press release.
Positive results from ongoing SMA gene therapy trial
12 August 2016
Gene therapy company, AveXis, yesterday announced positive results from its ongoing SMA type 1 trial. This phase 1 trial is testing the safety and effectiveness of AVSX-101, an AAV-based therapy that aims to replace the defective SMN1 gene. Trial participants have shown improvements in their motor skills and there have been no major safety concerns so far. AveXis is due to meet with the FDA to discuss future developments for AVSX-101. For more information, read AveXis’ press release.
Phase 2 trial for myotonic dystrophy recruiting in the UK
10 August 2016
AMO Pharma have today announced the initiation of a phase 2 clinical study testing tideglusib (AMO-02) in people with myotonic dystrophy type 1. Trial participants must be aged between 12-45 years old and must have been diagnosed before they were 12 years old. The trial will take place at the Newcastle-upon-Tyne Hospitals NHS Trust. For more information, see clinicaltrials.gov and the company’s press release. If you are interested in taking part in the trial, please get in touch with Dr Nikoletta Nikolenko on 01912418989 or email Nikoletta.firstname.lastname@example.org.
Summit plan to test new formulation of ezutromid as part of PhaseOUT DMD
9 August 2016
Summit Therapeutics have today announced that they are planning to test their new formulation of Ezutromid (SMT C1100) in the phase 2 PhaseOUT DMD trial. This decision is based on positive data showing that the new formulation is more easily absorbed into the bloodstream than the original formulation. PhaseOUT DMD is currently testing Summit’s original formulation of ezutromid in boys with Duchenne muscular dystrophy. Introducing the new formulation into this trial will allow the company to directly compare the safety and effectiveness of both formulations. This will then help to determine which formulation to use in future trials. For more information, read the company’s community FAQs and press release.
Update on Summit PhaseOUT DMD trial
8 August 2016
Summit Therapeutics’ phase 2 trial testing utrophin up-regulator Ezutromid (SMT C1100) in boys with Duchenne muscular dystrophy is now listed on clinicaltrials.gov. The UK arm of the trial will take place in London (Great Ormond Street Hospital), Liverpool (Alder Hey Children’s Hospital) and Manchester (Manchester Royal Infirmary). The company have recommended that interested families contact the sites directly to enquire about enrolling. For more information, please see clinicaltrials.gov.
Update on Duchenne drugs that skip exon 45 and 53
5 August 2016
Sarepta Therapeutics have started recruitment for their phase 3 trial testing SRP-4045 and SRP-4053 in boys with Duchenne muscular dystrophy aged 7-13 years old. Participants must have deletions that are amenable to exon 45 or exon 53 skipping and must be able to walk more than 300m but less than 450m in the six minute walk test. Recruitment has only started at one site in the US at the moment but we will keep you informed as soon as details for the UK site become available. For more information on this trial, click here.
Alexion report trial results for myasthenia gravis drug
3 August 2016
Alexion Pharmaceuticals has recently completed its phase 3 REGAIN trial testing eculizumab in people with refractory generalised myasthenia gravis, a rare form of myasthenia gravis that does not respond to conventional therapies. Eculizumab is an antibody that blocks part of the body’s immune response. Participants taking eculizumab showed some clinical improvement compared to the placebo group, however, a further extension trial is needed to confirm how effective the drug is. For more information read the company’s full press release.
Update on SMA drug nusinersen
2 August 2016
Biogen and Ionis Pharmaceuticals have announced that infants with SMA type 1 who have received nusinersen as part of the ongoing phase 3 trial called ENDEAR, have already experienced a statistically significant improvement in the achievement of motor milestones. The companies now intend to file for marketing approval with regulatory authorities in the coming months. Biogen is also working to open a global expanded access programme, which will allow all eligible infants with SMA type 1 to take nusinersen. We are seeking further information from the companies on implications for the UK and will share more details as soon as we have them. For more information, see this recent Q&A and the full press release.
Pfizer aim to develop gene therapy for Duchenne
2 August 2016
Pfizer has announced that it has acquired Bamboo Therapeutics, a biotechnology company that is focussed on developing gene therapies for certain rare conditions, including Duchenne muscular dystrophy. Robert Meadowcroft, Chief Executive Officer of Muscular Dystrophy, said:
I am delighted to hear this news and also to appreciate Pfizer’s continuing commitment to developing potential therapies for Duchenne muscular dystrophy.
Read the full press release from Pfizer.
Gene therapy for SMA type 1 given Breakthrough Therapy Designation
27 July 2016
Gene therapy company, AveXis, have recently announced that AVSX-101 has received Breakthrough Therapy Designation from the US Food and Drug Administration (FDA). AVSX-101 is an AAV-based gene therapy approach that is being developed as a one-time treatment for spinal muscular atrophy (SMA) type 1. Breakthrough Therapy Designation is similar to Fast Track Designation in that it facilitates the process of getting new treatments to patients earlier, however, it also has the added benefit of offering companies more intensive FDA guidance and collaboration. Read the full press release from AveXis.
Acceleron report positive phase I results for myostatin inhibitor
19 July 2016
The pharmaceutical company, Acceleron, recently announced the results of its phase I clinical trial testing ACE-083 in healthy people. ACE-083 is an investigational protein therapeutic that binds and blocks the action of a family of proteins that negatively regulate muscle growth (including the myostatin protein). The trial results showed that ACE-083 was safe and significantly increased the volume of the muscle that it was injected into. According to their press release, Acceleron intends to advance ACE-083 into a phase II clinical trial for people with facioscapulohumeral (FSH) muscular dystrophy.
Translarna to be tested in under 5s
15 July 2016
PTC Therapeutics have announced that they will be conducting a phase II clinical trial testing Translarna in 12 boys aged between two and four years who have Duchenne muscular dystrophy caused by a nonsense mutation. The study is being conducted to ensure that the blood levels of Translarna in this age group are as expected; this is known as a pharmacokinetic study. The study is going to be held at centres in the US and unfortunately boys aged five cannot take part. The company have said that ‘this is a small but important step in the process of broadening the licence to include younger patients.’ More information can be found at clinicaltrials.gov.
FDA give feedback on regulatory approval pathway for Raxone
14 July 2016
Santhera Pharmaceuticals has announced that the US Food and Drug Administration (FDA) does not support its plan to apply for accelerated approval for Raxone as a treatment for people with Duchenne muscular dystrophy who are not taking steroids. However the FDA did confirm that Santhera’s proposed phase III trial (called SIDEROS) would provide the necessary data to support an application for Raxone to treat all people with Duchenne muscular dystrophy, irrespective of steroid use. In their latest press release, Santhera have said that enrolment for the SIDEROS trial will start very soon.
Update from BioMarin on discontinued Duchenne drugs
8 July 2016
Following on from their announcement last month (see below), BioMarin have provided us with an update on the halted trials for drisapersen, BMN 044, BMN 045 and BMN 053. Trial participants are expected to take final doses of the drugs on or before 5 August 2016. The company are currently investigating whether access to the drugs could continue through compassionate use programs. For more information read the company’s full statement.
European Medicines Agency begin to review Raxone application
21 June 2016
Santhera Pharmaceuticals announced today that the European Medicines Agency (EMA) has validated its Marketing Authorisation Application (MAA) for the use of Raxone in people with Duchenne muscular dystrophy who are not taking steroids. This validation acknowledges that the submission process is complete and that the review process has begun. Santhera expects an opinion from the EMA’s expert review committee in the first quarter of 2017. Read the company’s press release.
Update on eteplirsen from Sarepta Therapeutics
7 June 2016
Sarepta Therapeutics have announced that the US Food and Drug Administration (FDA) has requested to see dystrophin data already obtained from the ongoing confirmatory study of eteplirsen (called PROMOVI). This request is part of the FDA’s ongoing assessment of etepliresen as a treatment of Duchenne muscular dystrophy. Read the company’s full press release.
New research into the biology of muscle development
3 June 2016
Researchers at the University of Edinburgh have discovered more about the role of nuclear membrane proteins in muscle development. These findings may be important for research into certain types of muscular dystrophies where the nuclear membrane is affected, such as Emery-Dreifuss muscular dystrophy and some types of limb-girdle muscular dystrophy. Read our full research news story here.
BioMarin withdraws application to license exon skipping drug in Europe
1 June 2016
We are disappointed to hear that the pharmaceutical company BioMarin has withdrawn its Marketing Authorization Application (MAA) from the European Medicines Agency (EMA) for drisapersen (Kyndrisa™). Drisapersen is a molecular patch that induces skipping of exon 51 of the dystrophin gene and has been trialled as a treatment for Duchenne muscular dystrophy. BioMarin have also announced that they intend to discontinue the development of other exon skipping drugs (BMN044, BMN045 and BMN053). These decisions follow negative discussions at a recent meeting of the EMA’s Committee for Medical Products for Human Use, in addition to the rejection of drisapersen by the US Food Drug Administration (FDA) earlier this year. In their press release, BioMarin have said that they will “develop a transition plan” for those currently taking these exon skipping drugs. We work closely with BioMarin and they have provided us with some more information in this statement. If you or your family are affected by this news, please don’t hesitate to contact us on 0800 652 6352 or email us at: email@example.com.
Santhera publish promising data on Duchenne drug Raxone
1 June 2016
Following their announcement yesterday that they have applied for EU market approval of Raxone®, Santhera Pharmaceuticals have published new data from the drug’s Phase III trial (DELOS). The data showed that Raxone® reduced respiratory complications in people with Duchenne muscular dystrophy who were not taking glucocorticoids. Read our full research news story for more information.
Santhera apply for licence to market Duchenne drug in Europe
31 May 2016
Santhera Pharmaceuticals announced today that it has submitted a Marketing Authorisation Application (MAA) to the European Medicines Agency (EMA) for Raxone® (idebenone). The application summarises promising data from the company’s phase II (DELPHI) and phase III (DELOS) studies, which demonstrated that Raxone® significantly slowed the rate of respiratory decline in people with Duchenne muscular dystrophy who were not taking glucocorticoids at the time. Read the full press release from Santhera.
Congenital muscular dystrophy drug receives fast track designation
20 May 2016
Santhera Pharmaceuticals announced today that their congenital muscular dystrophy drug omigapil received fast track designation from the US Food and Drug Administration (FDA). This will facilitate the process of getting the drug to patients earlier. Omigapil is currently being tested in a phase I clinical trial in people with congenital muscular dystrophy. Read the company’s full press release.
Update on mitochondrial replacement therapy
19 May 2016
A new research study examining the reproducibility and consistency of mitochondrial replacement therapy was recently published. According to the study certain strategies could be used for a more effective mitochondrial replacement. Mitochondrial donation IVF has been approved by the Human Fertilisation and Embryology Authority and could help thousands of women worldwide. Read Muscular Dystrophy UK’s news story.
More efficient exon 51 skipping drug taken forward into clinical trial
09 May 2016
We are very pleased report that WAVE Life Sciences has announced they are taking their exon 51 skipping drug candidate forward into clinical trial. The trial is expected to start in the second half of 2017. The company reported that their compound is 25 times more efficient and shows a broader distribution (including the heart and the diaphragm), in animal models when compared to existing exon skipping compounds. These results will be presented in June 2016 at the Parent Project Muscular Dystrophy (PPMD) Annual Connect Conference.
This is important and exciting news and we are delighted that the work has been conducted in close collaboration with Prof Matthew Wood from the University of Oxford. Muscular Dystrophy UK has supported research into exon skipping technology in Prof Wood’s laboratory for many years. Read the full press release from WAVE Life Sciences.
Reviewed PhaseOUT DMD trial protocol approved by regulators
05 May 2016
A revised protocol for the phase II clinical trial testing the efficacy of the utrophin upregulating compound SMT C1100 has been approved by the UK Medicines and Healthcare products Regulatory Agency and the Research Ethics Committee. The trial called PhaseOUT DMD is expected to start recruiting participants in UK and the US very soon. View the full trial protocol.
Update on Duchenne drug idebenone
03 May 2016
Santhera Pharmaceuticals announced today that it has submitted comprehensive briefing material and a meeting request to the US Food and Drug Administration (FDA) to discuss the filing of a New Drug Application (NDA) for Raxone® (idebenone) for the treatment of Duchenne muscular dystrophy. A marketing authorisation application (MAA) in Europe is also expected to be submitted in coming weeks. The Company also reported that a new phase III clinical trial (SIDEROS) testing idebenone in people with Duchenne muscular dystrophy taking steroids will start enrolling participants in coming weeks. Read the company’s full press release.
Phase II trial for utrophin up-regulating drug can now start in the US
26 April 2016
Summit Therapeutics announced today that their investigational new drug application for the utrophin up-regulating compound SMT C1100 (now also called “ezutromid”) was cleared by the US Food and Drug Administration (FDA). This means that the company is now able to conduct the phase II PhaseOUT DMD trial in the US. It is expected that the trial will start enrolling participants in the US from the third quarter of this year. The company had received regulatory approval from the UK Medicines and Healthcare products Regulatory Agency and the Research Ethics Committee to initiate PhaseOut DMD in the UK back in January 2016. Read the company’s full press release.
Advisory Committee votes “no” for eteplirsen approval
26 April 2016
The decision of the advisory committee to the US Food and Drug Administration (FDA) to vote against approval of the exon 51 skipping drug eteplirsen comes as a huge disappointment to many Duchenne families including those here in the UK. Following an emotionally charged 12 hour meeting yesterday which was also attended by Claire O’Hanlon on behalf of MDUK, the advisory panel voted 7 to 3 against approval on the basis that the clinical data did not meet the FDA requirements. The FDA is not bound by the Advisory Committee’s recommendation but takes its advice into consideration when approving new drugs. The FDA’s final decision is expected on 26 May 2016. Read Sarepta’s full press release.
Update from ongoing SMA clinical trial
21 April 2016
Ionis pharmaceuticals gave an update on their ongoing phase II clinical trial of nusinersen in infants with type 1 SMA. The data showed that there have been no deaths or need for permanent ventilation. Read the full press release.
Prof Morgan updates us on her work studying stem cell transplantation
20 April 2016
Prof Jennifer Morgan at University College London is investigating ways of improving the efficiency of stem cell transplantation in degenerating muscle. This PhD studentship project is funded by the Duchenne Forum. Read Prof Morgan’s second year progress report here.
Second part of the MoveDMD trial initiated
12 April 2016
Catabasis Pharmaceuticals announced today that they have dosed the first patient in part B of the MoveDMD trial. They also announced positive result from part A of the trial. MoveDMD is a phase I/II trial testing the compound CAT-1004 in boys with Duchenne muscular dystrophy aged between four and seven years old. Read Catabasis Pharmaceuticals full press release.
Santhera pharmaceuticals announces increase in product sales
12 April 2016
Santhera is a pharmaceutical company whose lead product Raxone is authorised in the EU for the treatment of Leber’s hereditary optic neuropathy (LHON). Santhera is also developing Raxone for the treatment of Duchenne muscular dystrophy and omigapil for the treatment of congenital muscular dystrophy. The company’s good financial health will help move forward its drug development plans. Christoph Rentsch, Chief Financial Officer of Santhera said:
Our Company is well financed and we have adequate resources to execute our current commercial and development plans.
Read the company’s full press release.
Dr Tedesco updates us on his work developing a cell therapy for Duchenne
7 April 2016
Dr Francesco Saverio Tedesco at University College London is using induced pluripotent stem cell (iPSC) technology to develop a possible therapy for Duchenne muscular dystrophy. Read Dr Tedesco’s first year progress report here.
Update on Phase I testing of new formulation of utrophin up-regulator
30 March 2016
Summit Therapeutics today announced interim results from an ongoing Phase I trial of a new formulation of utrophin up-regulator, SMT C1100. Read Summit’s press release here. This trial is separate to the Phase II PhaseOut DMD trial that we have previously reported on. It is testing a new formation of SMT C1100, which according to this new data, is absorbed into the bloodstream more easily than the old formulation.
New potential drug to treat IBM
24 March 2016
A new drug called Arimoclomol could treat the muscle-wasting condition inclusion body myositis (IBM) according to a study conducted by researchers in the UK and US. The study published yesterday reports that the drugs reverses key symptoms of the condition in mice and is safe and well-tolerated in people. Muscular Dystrophy UK news story coming soon.
FDA sets new date to review eteplirsen
15 March 2016
Sarepta Therapeutics announced that the US Food and Drug Administration (FDA) will review its New Drug Application (NDA) for eteplirsen for the treatment of Duchenne muscular dystrophy amenable to exon 51 skipping on 25 April 2016. Read Sarepta Therapeutics’ news release.
Million pound boost for Duchenne research
15 March 2016
The European Commission awarded The John Walton Muscular Dystrophy Research Centre at Newcastle University £4.6 million for a new clinical trial to test the anti-inflammatory drug, vamorolone for the treatment of Duchenne muscular dystrophy. Read Newcastle University’s press release.
Spinal muscular atrophy research update
29 Feb 2016
A possible therapeutic target for spinal muscular atrophy (SMA) has been identified by researchers in the US. The research was published in the scientific journal Human Molecular Genetics. Read the Muscular Dystrophy UK news story.
Clinical trial to treat cardiomyopathy in Duchenne initiated
26 Feb 2016
A phase I/II clinical trial using stem cells to treat cardiomyopathy in Duchenne muscular dystrophy enrolled its first participant. The trial called HOPE-Duchenne is testing the safety and efficacy of CAP-1002 and recruiting participants in the US. Read Capricor Therapeutics’ press release.
Protocol for Phase II utrophin up-regulation trial now available
24 Feb 2016
The protocol for the PhaseOUT DMD trial is now available on the EU Clinical Trials Register. The phase II clinical trial will test how the utrophin up-regulating compound SMT C1100 works and how safe it is when given to boys with Duchenne muscular dystrophy. Summit Therapeutics, the sponsor of the trial, also has a helpful FAQ document about the utrophin up-regulation programme.
Study identifies serum biomarkers for three types of muscular dystrophy
22 Feb 2016
Researchers at Newcastle University in collaboration with Pfizer identified four serum markers for Becker muscular dystrophy, limb girdle muscular dystrophy 2B and Duchenne muscular dystrophy. The markers are important for monitoring the progression of the conditions as well as the response to treatment in both preclinical and clinical studies. Read the Muscular Dystrophy UK news story.
Enrolment completed for SMA trial
22 Feb 2016
AveXis announced that they have completed enrolling for the phase I clinical trial of AVXS-101 for the treatment of spinal muscular atrophy (SMA) Type 1. AVXS-101 is a gene therapy product which aims to replace the defective SMN1 gene. Read the AveXis press release.
Disease process in secondary dystroglycanopathies start before birth, new study shows
22 Feb 2016
Muscular Dystrophy UK funded research shows for the first time that disease process starts before birth in a mouse model of secondary dystroglycanopathies including limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophy 1C (MDC1C). This could compromise the ability of muscles to grow and regenerate after birth. These findings are of significant importance for the development of future therapies for these groups of conditions. Read the Muscular Dystrophy UK research news story.
Differences in the ability of foetal and adult muscle stem cells in repairing muscle
22 Feb 2016
New research conducted by scientists at Sanford Burnham Prebys Medical Discovery Institute, describes the differences in the ability of foetal and adult muscle stem cells in repairing muscle. This work could have exciting implications for treating muscle-wasting conditions. Read Muscular Dystrophy UK’s news story.
FDA grants Orphan Drug Designation to congenital muscular dystrophy drug
19 Feb 2016
The FDA (US Food and Drug Administration) granted Orphan Drug Designation (ODD) to TXA127 for the treatment of laminin-deficient congenital muscular dystrophy (LAMA2 MD or MDC1A). TXA127 is a drug similar to the natural hormone angiotensin and the lead compound of the biopharmaceutical company Tarix Orphan. Read Tarix Orphan’s press release.
Genome editing in stem cells as potential therapy for Duchenne muscular dystrophy
16 Feb 2016
Scientists at the University of California used genome editing and stem cells to restore the function of the dystrophin protein. This could be a new potential therapeutic approach for people with Duchenne muscular dystrophy. Read Muscular Dystrophy UK’s research news story.
CAT-1004 to be presented at international conference
10 Feb 2016
Catabasis Pharmaceuticals announced that they will present CAT-1004 for the treatment of Duchenne muscular dystrophy and the MoveDMD trial design at the XIV International Conference on Duchenne and Becker Muscular Dystrophy. Read Catabasis Pharmaceuticals’ press release.
Tadalafil trial ceased
10 Feb 2016
Lilly reported that they ceased the phase III Open Label Extension study of Tadalafil for the treatment of Duchenne muscular dystrophy. This was because the study did not show any evidence that the drug slowed the decline in the walking ability of boys with Duchenne muscular dystrophy. Read the full update from Lilly.
FDA requires more time to complete review on eteplirsen
09 Feb 2016
Sarepta Therapeutics announced that the US Food and Drug Administration (FDA) will require additional time to complete its review of the New Drug Application (NDA) for eteplirsen, for the treatment of Duchenne muscular dystrophy amenable to exon 51 skipping. Read Sarepta Therapeutics’ news release.
Tragic loss during clinical trial
09 Feb 2016
We learned with great sadness that the boy who developed serious health issues during the HALO trial testing the experimental drug HT-100 for the treatment of Duchenne muscular dystrophy has lost his life. Robert Meadowcroft, Chief Executive Officer of Muscular Dystrophy UK issued a statement:
We are deeply saddened to hear of the tragic loss of a boy involved in a clinical trial of HT-100, after being taken ill last week. Our thoughts are with his family and other loved ones at this incredibly difficult time.
Akashi Therapeutics, the producer of HT-100, is conducting a thorough review of the trial process to date, and we hope for details of these findings as soon as possible.
Trials are not without their risks, and it is absolutely essential that safety continues to be prioritised and every measure taken to protect the health of all children involved. It has only been with the courage of boys and their families in taking part in clinical trials in the past, that we see the progress in managing Duchenne muscular dystrophy that we do to today.
Read Akashi Therapeutics’ full update
Muscular Dystrophy Association to Collaborate with Catabasis Pharmaceuticals on Development of CAT-1004
05 Feb 2016
Catabasis Pharmaceuticals’ announced today that they will be collaborating with Muscular Dystrophy Association (MDA) to support the second part of the MoveDMD trial testing the compound CAT-1004. Read the full announcement form Catabasis Pharmaceuticals.
Positive results from Duchenne trial
28 Jan 2016
We were pleased to hear Catabasis Pharmaceuticals’ announcement on positive results from the first part of their MoveDMD trial. The phase I/II trial is testing the compound CAT-1004 for the treatment of Duchenne muscular dystrophy. The second part of the trial is expected to start in the first half of 2016. Read the full announcement form Catabasis Pharmaceuticals.
Dosing and Enrollment in HT-100 Trial Suspended
26 Jan 2016
We were very saddened to hear that the HALO trial testing the experimental drug HT-100 in Duchenne muscular dystrophy has been suspended because one of the boys in trial is experiencing serious, life-threatening health issues. Read Akashi Therapeutics’ full statement.
Phase II utrophin trial gets the go ahead
21 Jan 2016
Muscular Dystrophy UK welcomes the news that Summit Therapeutics received regulatory approval to start a phase II clinical trial of the utrophin up-regulating compound SMT C100 for the treatment of Duchenne and Becker muscular dystrophies. Read the full press release from Summit Therapeutics.