Latest edition of the Journal of Neuromuscular Diseases now online – Sep 2020
A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below:
Journal of Neuromuscular Diseases: Volume 7, issue 4
*NMD4C lead investigator Hanns Lochmüller is joint editor-in-chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National Institute of Neurological Disorders and Stroke.
Articles in this issue:
- Towards central nervous system involvement in adults with hereditary myopathies
- Induction of skeletal muscle progenitors and stem cells from human induced pluripotent stem cells
- Lower extremity muscle involvement in the intermediate and Bethlem myopathy forms of COL6-related dystrophy and Duchenne muscular dystrophy: A cross-sectional study
- Ganglionopathies associated with MERRF syndrome: An original report
- Respiratory dysfunction in Becker muscular dystrophy patients: A case series and autopsy report
- Decision-making and selection bias in four observational studies on Duchenne and Becker muscular dystrophy
- Phenotypic spectrum of myopathies with recessive anoctamin-5 mutations
- Natural history of type 1 spinal muscular atrophy in a series of Argentinian children
- Neuroanatomical models of muscle strength and relationship to ambulatory function in spinal muscular atrophy
- Facilitators and barriers to wearing hand orthoses by adults with Duchenne muscular dystrophy: A mixed methods study design
- Identification and characterization of splicing defects by single-molecule real-time sequencing technology (PacBio)
- Swallowing, chewing, and speaking: Frequently impaired in oculopharyngeal muscular dystrophy
- Correlation between quantitative MRI and muscle histopathology in muscle biopsies from healthy controls and patients with IBM, FSHD, and OPMD
- A new point mutation in the PMP22 gene in a family suffering from atypical HNPP
- Severe inflammatory myopathy in a pulmonary carcinoma patient treated with Pembrolizumab: An alert for myologists
- Familial oculo-leptomeningeal transthyretin amyloidosis caused by Leu55Arg mutation
- Taking a Strohl through history: Putting Strohl back in Guillain-Barré-Strohl syndrome
- Measuring outcomes in adults with spinal muscular atrophy: Challenges and future directions – Meeting report
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NMD4C Hosts 3rd Annual Basic Research Summer School at uOttawa!
From June 8 to 10, 2026, we hosted the 3rd annual NMD4C Basic Research Summer School at the University of Ottawa. The program supported 28 neuromuscular research trainees (graduate students and postdoctoral fellows) from across Canada and focused on developing practical skills, strengthening core knowledge in neuromuscular research, and providing opportunities to present and discuss their work. Through a combination of tutorials, lectures, hands-on workshops in cutting-edge wet lab techniques, flash talks, and both structured and informal networking, participants engaged with faculty, exchanged ideas, and built connections across institutions and career stages.
New Publication from the NMD4C Clinical Trial Network Strengthens Trial Capacity in Canada
We are pleased to share a new publication from the NMD4C Clinical Trial Network led by Kerri Lynn Schellenberg, Homira Osman, Maria Masnata, Rhiannon Hicks, Corinne Kagan, Ana Stosic, Stacey Lintern, Erin Beattie, Drs. Hanns Lochmüller, Craig Campbell, and Jean K Mah. This work focuses on the implementation of a coordinated Canadian neuromuscular clinical trial network to enhance trial readiness, capacity, and access in rare disease research.
Canadian-Led Phase II Studies Advance Vamorolone Evidence in Duchenne Muscular Dystrophy
NMD4C investigators contributed to two phase II studies evaluating vamorolone in boys with Duchenne muscular dystrophy across early childhood and adolescence, demonstrating safety, favorable pharmacokinetics, and potential efficacy. Led by Dr. Jean Mah and conducted across Canadian clinical trial sites with national and industry collaborators, the findings supported Health Canada approval of vamorolone as the first treatment for DMD in Canada. Leaders from both the clinical and patient advocacy communities, including Defeat Duchenne Canada, highlighted the impact of collaboration among patients, families, clinicians, and researchers in advancing care and improving access to new therapies.