Lochmüller Lab

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 Mahsa Haghighi, research coordinator at .