The Ottawa Neuromuscular Centre screens first participant in the world for a multinational congenital myasthenic syndrome natural history study

The neuromuscular centre at The Ottawa Hospital is excited to announce that we are the first site globally to screen a participant for the multinational Natural history study in participants with DOK7 congenital myasthenic syndromes (CMS), sponsored by Argenx 

This international observational study evaluates participants’ symptoms and quality of life to understand disease activity in adults who have a diagnosis of DOK7 CMS due to biallelic pathogenic mutations in the DOK7 gene across a broad range of disease severities (participants must have a total score of >=3 in the quantitative myasthenia gravis score, tool used to measure disease severity). Further to understanding these patient-reported outcome measures, the results of this observational study will help to inform the designs of future clinical trials.


Principal Investigator Dr Hanns Lochmüller says: We have come a long way since my group worked together with groups in Japan and the UK to identify the DOK7 gene as an important cause of congenital myasthenic syndrome 20 years ago 1 , 2. We are now delighted to lead the way in screening the first participant in this international multi-centre study and are excited to provide this opportunity for patients with DOK7 CMS to contribute to the global understanding of quality of life and quantitative outcome measures. As a Canadian site, we are proud to showcase the efficiency, organization, and trial capacity of Canada’s clinical research centres to conduct neuromuscular clinical trials. We will remain open for recruitment over the coming weeks and welcome enquiries from patients and referrals from colleagues by contacting our trial coordinator” (see below).


The Multicenter, Multinational, Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes is currently open for recruitment at the Ottawa Neuromuscular Centre, located at the Civic campus of The Ottawa Hospital. You can read more about the Lochmüller lab’s clinical research activities and see a full listing of our ongoing trials on the lab website. For referrals and enquiries, please contact Liz Duff, research coordinator at  

First participant screened in global CMS natural history study

Read next...

We are hiring a new clinical research coordinator!

Lochmüller Research Group Hiring Clinical Trial Coordinator

Due to recent funding success and expansion of our clinical trials team we have a need for a highly motivated Research Coordinator that will assist...
Copy of Lochmuller Lab - PhD opportunity (LLab)

Lochmüller Lab seeking PhD student

The Lochmüller Research Group are seeking a highly motivated PhD student to join our team at the Childrens Hospital of Eastern Ontario Research Institute (CHEO...
New Publication - Leading global expert in DMD and bone health Dr. Leanne Ward publishes systematic review and grading of evidence for biphosphonate therapy in glucocorticoid-treated patients with Duchenne Muscular Dystrophy in Neurology, with Dr. Hanns Lochmüller as a co-author.

New Publication: Bisphosphonates in Glucocorticoid-Treated Patients with Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence

Leading global expert in Duchenne Muscular Dystrophy (DMD) and bone health Dr. Leanne Ward publishes systematic review and grading of evidence for bisphosphonate therapy in...
text reding new clinical trial opportunities

New Clinical Trial Opportunities for Children and Adults in Ottawa

Our clinical research team is excited to share five new clinical trials activated across both pediatric and adult sites in Ottawa, CHEO and TOH. We...
Dr. Andreas Roos receiving award on WMS 2023 stage, with text reading Congratulaions Dr. Andreas Roos, WMS President's Prize for Emerging Myologist of the Year 2023.

Dr. Andreas Roos wins Emerging Myologist of the Year Prize at WMS 2023

We are excited to congratulate Dr. Andreas Roos on winning the World Muscle Society’s (WMS) President’s Prize for Emerging Myologist of the Year!   This award...
Lochmüller Lab members gather for a group photo at the Ottawa NMD poster session.

Lochmüller Lab at Ottawa NMD 2023

This September 7th to 9th the University of Ottawa Éric Poulin Centre for Neuromuscular Disease (CNMD) hosted the 6th Ottawa International Conference on Neuromuscular Disease...