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Research News

Scientists identify parent-of-origin phenomenon in myotonic dystrophy

Friday, March 3, 2017

Research partially funded by Muscular Dystrophy Canada, an international research team co-led by The Hospital for Sick Children (SickKids) and Vrije Univesriteit Brussel in Belgium has determined how myotonic dystrophy (a form of muscular dystrophy) is carried through families, a phenomenon known as the parent-of-origin effect. Muscular Dystrophy Canada is grateful to the Rachel Fund for financial support.

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Marathon Pharmaceuticals announces they are holding on commercialization efforts for deflazacort in the USA

In an Open Letter released on February 13, 2017, Marathon expresses their commitment to the Duchenne community and states that they are pausing our commercialization efforts in order to meet with Duchenne community leaders and explain our commercialization plans, review their concerns, discuss all options, and move forward with commercialization based on the resulting plan of action.

Read the full letter


Muscular Dystrophy Canada commends US on the approval of Drug for Duchenne Muscular Dystrophy.

Monday, February 13, 2017 – Toronto, Canada

Thursday, February 9, 2017 was an historic day for American Duchenne patients and their families. The US Food and Drug Administration (FDA) approved EMFLAZATM (deflazacort). This is the first approval of a steroid for Duchenne and a therapy that applies to people with Duchenne five (5) years of age and older, regardless of genetic mutation.

“This is an exciting time in the world of neuromuscular disorders, like Duchenne. For the first ever, new drugs and treatments are coming to market and showing great promise. This is a result of the funds invested, by organizations like Muscular Dystrophy Canada, in neuromuscular research.” commented Barbara Stead-Coyle, CEO of Muscular Dystrophy Canada.

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FDA approves drug for treating SMA

December 23, 2016

The U.S. Food and Drug Administration (FDA) approved SPINRAZAT (nusinersen) for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. SPINRAZA is the first and only treatment approved in the U.S. for SMA, a leading genetic cause of death in infants and toddlers that is marked by progressive, debilitating muscle weakening.

Read FDA Press Release

Read BIOGEN Press Release


Announcing the 2nd Annual National Clinical Trial Training Program

The Montreal Neurological Institute and Hospital’s Clinical Research Unit (CRU), under the direction of Dr. Angela Genge, will hold its 2nd Annual National Clinical Trial Training Program on June 15 & 16, 2017.  Principal investigators, researchers, clinical research coordinators, and representatives from industry are invited to attend this two-day program covering education and training on: clinical trial readiness, investigator-initiated trial development, ethics submissions, budget and finance, development of Patient Reported Outcomes (PROs) and other trial outcome measures, and more.

For more information and to register


First human, in-vitro model for muscular dystrophy is developed at the Harvard Stem Cell Institute

October 2016

For decades, researchers have struggled to understand how the muscular dystrophy works and to find suitable treatments. One of the major challenges is finding a good system in which to model the disease. Animals such as mice, often used to model human diseases, are not good analogues for muscular dystrophy in humans. Now, researchers have developed a muscle-on-a-chip platform to study the disease.

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PTC Therapeutics responds to the question “will ataluren (TranslarnaTM) be available to Canadian patients?”

“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.”


New therapeutic development showing promise
for infants with SMA

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.

Read more from CTV News


FDA grants accelerated approval to first drug for Duchenne muscular dystrophy

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.

Read more from the FDA

Read more at Muscular Dystrophy News

Read more at Parent Project Muscular Dystrophy


Bioblast Pharma Reports Results of a Clinical Trial of Trehalose in Oculopharyngeal Muscular Dystrophy (OPMD) Patients

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.”

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Gene Controlling Muscle Regeneration in MD-like Diseases Identified in Study

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.

Read more


PHOTO_Dr_Michael_Rudnicki

A stem cell discovery – Q&A with Dr. Michael Rudnicki

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.

Read our exclusive interview with Dr. Rudnicki


CRISPR: Clustered regularly-interspaced short palindromic repeats

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 Announces Positive Interim Results From HOPEMD Phase 2 Clinical Study of Cabaletta(R) in Oculopharyngeal Muscular Dystrophy (OPMD)

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).


Ottawa researchers discover that Duchenne muscular dystrophy is a stem cell disease

LOGO_OttawaHostp_bilingual

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.”


PTC Therapeutics news release – Oct 30, 2015

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.


New Therapeutic Strategy for Myotonic Dystrophy

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.


Free DMD/BMD gene sequencing

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:

  • Have a confirmed diagnosis or be suspected of having Duchenne or Becker muscular dystrophy based on clinical symptoms, as assessed by their treating physician, and have a positive creatine kinase (CK) test. The Decode Duchenne program is for adults and children with DBMD, but it is not for carrier testing of unaffected females.
  • Have not previously had genetic testing, or must require additional genetic testing to identify a causative mutation.
  • Provide documentation to confirm the patient’s lack of insurance coverage, insufficient insurance coverage, or a denial of coverage for genetic testing.
  • Be citizens or legal residents of the United States or Canada.
  • Register on DuchenneConnect.org

Download the Application Form for more information and for contact information.


Prosensa announces commencement of re-dosing of drisapersen in North America in patients with Duchenne muscular dystrophy

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.

Read more


Development of Neuromuscular Network to enhance research and clinical care

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


Neuromuscular Respiratory Care Research Grant Funding Opportunity Launched

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


Ataluren Clinical Data Demonstrate an Increase in Dystrophin Expression in Duchenne Muscular Dystrophy Patients

- 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


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