“Translarna received marketing authorization by the European Medicines Agency and is available in Europe and regions that reference that authorization. Currently, Translarna has not received marketing authorization in Canada. Based on the outcome of ongoing regulatory interactions PTC Therapeutics is developing a plan to file with Health Canada a New Drug Submission for Translarna in 2017. PTC remains committed to working with regulatory authorities to make Translarna available to all who may benefit.”
From: CTV News
Doctors are hopeful that a newly developed drug could be a much-needed breakthrough for children with spinal muscular atrophy, an incurable disease that often leads to paralysis and early death. Doctors involved in two international clinical trials were testing an experimental drug called nusinersen against a placebo on hundreds of children with the two most serious types of SMA — type 1 and type 2 — when they made the discovery.
September 19, 2016
The U.S. Food and Drug Administration today approved Exondys 51 (eteplirsen) injection, the first drug approved to treat patients with Duchenne muscular dystrophy (DMD). Exondys 51 is specifically indicated for patients who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping, which affects about 13 percent of the population with DMD.
September 12, 2016
Trehalose, formerly known as Cabaletta, is a sugar-based compound that is known as a stabilizer of frozen food, in freeze-drying of biological systems and cells, and is a stabilizer of therapeutic parental proteins in tablet and IV solutions. This disaccharide chemical chaperone has been shown to reduce pathological aggregation of proteins within cells in several diseases associated with abnormal cellular-protein aggregation such as OPMD, Huntington’s disease, spinocerebellar ataxia, Parkinson and Alzheimer disease.
Bernard Brais, MD, PhD, McGill University, principal investigator from the HOPEMD study stated, “This data provides preliminary evidence that when trehalose is stopped, patients return to a level of symptoms they had prior to taking the drug. This suggests that trehalose influences at least the major symptom of dysphagia in patients, further supporting that it may influence the evolution of this late onset muscular dystrophy.”
From: Muscular Dystrophy News
The protein product of a gene called AUF1 determines whether muscle stem cells maintain the ability to regenerate muscles lost by injury or as a result of aging or disease, according to a study conducted on mice by researchers at New-York University (NYU), Langone Medical Center and the University of Colorado at Boulder.
Late last year, a groundbreaking study out of the University of Ottawa was the first to demonstrate that Duchenne muscular dystrophy directly affects muscle stem cells.
CRISPR technology is a molecular biology technique that can have many possible uses in genetics. It must be tested and adapted for each specific genetic disease. Most research on the use of CRISPR in genetic diseases are ongoing and not yet applied. Here are links to information about this technology:
BioBlast Pharma Ltd., (Nasdaq:ORPN), a clinical-stage biotechnology company developing meaningful therapies for patients with rare and ultra-rare genetic diseases, announced positive interim results from a Phase 2 open label clinical study of its lead compound, Cabaletta® (IV trehalose), in 25 patients with oculopharyngeal muscular dystrophy (OPMD).
NOVEMBER 16, 2015 – OTTAWA ON – A new study from The Ottawa Hospital and the University of Ottawa is poised to completely change our understanding of Duchenne muscular dystrophy and pave the way for far more effective treatments.
The study, published in Nature Medicine on November 16, 2015, is the first to show that Duchenne muscular dystrophy directly affects muscle stem cells.
“For nearly 20 years, we’ve thought that the muscle weakness observed in patients with Duchenne muscular dystrophy is primarily due to problems in their muscle fibres, but our research shows that it is also due to intrinsic defects in the function of their muscle stem cells,” said Dr. Michael Rudnicki, senior author of the study. “This completely changes our understanding of Duchenne muscular dystrophy and could eventually lead to far more effective treatments.”
ACT DMD, the largest placebo-controlled study ever conducted in patients with DMD, is a multi-centre, randomized, double-blind, Phase 3 clinical trial involving 228 patients in 53 sites across 18 countries, including three sites and nine patients in Canada. Patients between the ages of seven and 16 with nonsense mutation DMD were randomized to receive either Translarna 40mg/kg per day or placebo.
The ACT DMD study confirmed the favorable safety profile of Translarna, which was generally well- tolerated, consistent with results from previous studies. More than 500 nmDMD patients have now received Translarna, the largest population to be treated with a disease-modifying agent in DMD.
A new study published in the journal Human Molecular Genetics revealed a new therapeutic approach that could potentially alter the progression of muscle damage and dysfunction in patients with myotonic dystrophy.
The primary researcher of this study was the first recipient of a grant from Muscular Dystrophy Canada’s The Rachel Fund for Myotonic Dystrophy.
If you have Duchenne or Becker muscular dystrophy, you may be eligible to receive genetic testing offered through Decode Duchenne. This program, by Parent Project Muscular Dystrophy and supported by Sarepta Therapeutics, provides genetic testing at no cost to eligible patients who are unable to access testing due to barriers such as a lack of insurance or insufficient insurance coverage.
To participate in Decode Duchenne, patients must:
Download the Application Form for more information and for contact information.
Leiden, The Netherlands, Sept. 17, 2014 (GLOBE NEWSWIRE) — Prosensa Holding N.V. (NASDAQ: RNA), the biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet need, today announced that a comprehensive program of re-dosing has commenced, with the first patients now re-dosed in the United States. All dosing in the drisapersen clinical program had been placed on hold by GSK on September 20, 2013, upon announcement of the DEMAND III study results.
June 12, 2014 – Muscular Dystrophy Canada is thrilled to announce the creation of a pan-Canadian neuromuscular disease network. The network, which will be co-funded by CIHR and Muscular Dystrophy Canada, will involve researchers and neuromuscular disease clinical care personnel from across the country. It will empower patients and families through improved access to needed information, resources, and connections with each other through a patient portal. READ MORE
Muscular Dystrophy Canada has launched a request for proposals aimed at addressing gaps in knowledge and enhancing knowledge translation related to respiratory care. Improving the respiratory health of people affected by neuromuscular disorders is a strategic priority for Muscular Dystrophy Canada. We are committed to funding research to advance the respiratory health, health care services, and quality of life for people living with neuromuscular disorders. Read more
- Data Published in PLOS ONE -
South Plainfield, NJ – December 12, 2013 – PTC Therapeutics, Inc.,(NASDAQ: PTCT) today announced the publication of data in PLOS ONE demonstrating that nonsense mutation Duchenne muscular dystrophy (nmDMD) patients treated with ataluren, an investigational new drug, experienced an increase in dystrophin expression. These data were obtained from PTC’s Phase 2a open-label trial of ataluren in which change in full-length dystrophin expression, as assessed by immunofluorescent staining, was the primary endpoint. Read more
Research conducted by Michael Rudnicki at Ottawa Hospital Research Institute reveals that injecting the protein Wnt7a into mice with Duchenne muscular dystrophy increased muscle strength almost two-fold – to nearly normal levels. They also found that the size of the mice muscle fibre increased and there was less muscle damage, compared to mice not given Wnt7a. Read more.
Toshifumi Yokota, Friends of Garrett Cumming Research Chair at the University of Alberta, discovered a mutation that causes a significant increase in dystrophin protein in mice. “If we can find the mechanism that causes the dystrophin protein to regrow, it would be a drug target for the treatment of Duchenne muscular dystrophy,” said Yokota. “Our discovery is very promising.” Watch a news story