August 2021 Newsletter

The August 2021 issue of the NMD4C newsletter is now available!

We share a sneak peek of an exciting project we are working on with MDC, positive funding decisions for projects led by NMD4C members, and highlight some of the events and activities from around the community for SMA awareness month, happening in August! Plus upcoming events and webinars, meet the team spotlights, and more!

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New Research from our Members

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy

  • Dr. Elizabeth Kichula with Dr. Hugh McMillan (Investigator) as a co-author.


Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect

  • Dr. Jamie Leckie with Dr. Lawrence Korngut (investigator) as a co-author.


Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy

  • Dr. Daniël van As, with Dr. Hanns Lochmüller (lead investigator) as a co-author.


(SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population

  • Claudia Côté, with Dr. Bernard Brais (investigator) & Dr. Cynthia Gagnon (investigator) as co-authors.


The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

  • Dr. Andreas Traschütz, with Dr. Bernard Brais (investigator) & Dr. Cynthia Gagnon (investigator) as co-authors.


Molecular and cellular basis of genetically inherited skeletal muscle disorders

  • Dr. James Dowling (NMD4C steering committee member).


Genetic therapy for congenital myopathies

  • Dr. Nika Maani, with Dr. James Dowling (NMD4C steering committee member) as a co-author. 


Pseudohypertrophy of the Extensor Digitorum Brevis in diabetic polyneuropathy

  • Dr. Pierre Bourque with Dr. Jodi Warman (steering committee) as a co-author.


Paradigm shift in the era of disease-modifying therapies for Spinal Muscular Atrophy type 1: respiratory challenges and opportunities

  • Dr. Lena Xiao with Dr. Reshma Amin (investigator) as a co-author.


Decannulation following tracheostomy in children: A systematic review of decannulation protocols

  • Dr. Rahul Verma with Dr. Reshma Amin (Investigator) as a co-author.


Pragmatic recommendations for children with medical complexity requiring aerosol-generating medical procedures in school during the COVID-19 pandemic

  • Dr. Rahul Verma, with Dr. Reshma Amin (investigator) as a co-author.


A Burning Success: Ganglionated Plexus Ablation for Paroxysmal Atrial Fibrillation

  • New publication from Dr. Reshma Amin (investigator).


Tough transitions: Family caregiver experiences with a pediatric long-term ventilation discharge pathway

  • Dr. Jackie Chiang, with Dr. Reshma Amin (investigator) as a co-author.