Clinical research

In clinical research, individuals volunteer to participate in studies that aim to uncover better ways to treat, prevent, diagnose and understand human disease. Our clinical research includes clinical trials, where a new treatment or intervention is tested; patient registries, which collect information about disease epidemiology and specific features; and natural history studies, which monitor patients in detail to discover more about how diseases progress. Trials are conducted at the Children’s Hospital of Eastern Ontario and The Ottawa Hospital for the following neuromuscular diseases: Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth, Congenital Myasthenic Syndromes, Duchenne Muscular Dystrophy, Myotonic Dystrophy, Facio-Scapulo-Humeral Muscular Dystrophy, Idiopathic Inflammatory Myopathy, Oculo-Pharyngeal Muscular Dystrophy, Myasthenia Gravis and Spinal Muscular Atrophy. 

Dr Hanns Lochmüller is a highly experienced investigator who has led multiple academic and commercially sponsored clinical research studies in Europe and Canada and is now Principal Investigator for multiple adult and pediatric trials in Ottawa. 

Pediatric Trials at CHEO

Dr Lochmüller and pediatric neurologist and neuromuscular specialist Dr Hugh McMillan work closely together on pediatric neuromuscular research at CHEO, further supported by pediatric neurologist Dr Amanda Yaworski. This collaborative approach allows the research coordinators to work as a joint team helping to run clinical studies for both doctors and provides further opportunities for pediatric neuromuscular patients to participate in clinical trials. 

Adult Trials at The Ottawa Hospital

Dr Lochmüller sees adult neuromuscular patients in clinic at The Ottawa Hospital (TOH), working closely with Dr Ari Breiner and the team at the Ottawa Neuromuscular Centre to conduct neuromuscular research, further supported by neurologist Dr Alberto Aleman. 

A list of currently active and past trials is provided below.

Contact Information

If you are affected by one of the neuromuscular diseases listed below and would be interested in participating in an Ottawa-based clinical trial, please contact coordinator Emilie Hill-Smith for children and Jessica MacGregor for adults. 

If you are a pharmaceutical company interested in Ottawa as a participating centre for your study, please contact Dr Lochmüller directly. 

For general inquiries about the Canadian neuromuscular clinical trial landscape from a patient perspective and advice about what it means to participate in clinical research, please contact Muscular Dystrophy Canada. 

Investigators, pharmaceutical company representatives and other stakeholders interested in clinical trials in Canada are also encouraged to visit the Neuromuscular Disease Network for Canada website to see how they can support you. 

Current Trials

Trial NameDiseasePopulationSponsorRecruitment StatusPI
A Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes (CMS)Congenital Myasthenic Syndromes (CMS)AdultArgenxActive, Open for recruitmentDr. Hanns Lochmüller
A Study Of PGN-EDO51 In Participants With Duchene Muscular Dystrophy Amenable To Exon 51-Skipping Treatment (CONNECT1-EDO51)Duchenne Muscular Dystrophy (DMD)PediatricPepGen IncActive, Open for recruitmentDr. Hugh McMillan
Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping (DELIVER)Duchenne Muscular Dystrophy (DMD)PediatricDyneActive, Open for recruitmentDr. Hugh McMillan
Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) - Natural History StudyFacioscapulohumeral Muscular Dystrophy (FSHD)AdultUniversity of Kansas Medical CenterActive, Open for recruitmentDr. Hanns Lochmüller
Study to Evaluate the Efficacy and Safety of Satralizumab in FSHD1 (REINFORCE)Facioscapulohumeral Muscular Dystrophy (FSHD)AdultCentre Hospitalier Universitaire de NiceActive, Open for recruitmentDr. Hanns Lochmüller
A Study to Investigate the Efficacy and Safety of Efgartigimod PH20 SC in Adult Participants With Active Idiopathic Inflammatory Myopathy. (ALKIVIA)Idiopathic Inflammatory MyopathyAdultArgenxActive, Open for recruitmentDr. Hanns Lochmüller
A Phase 1/2, Randomized, Double-blind, Placebo controlledSingle- and Multiple dose Escalation Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VX 670in Adult Subjects with Myotonic Dystrophy Type 1Myotonic Dystrophy Type 1 (DM1)AdultVertex Pharmaceuticals LtdActive, Open for recruitmentDr. Hanns Lochmüller
Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1 (FREEDOM-DM1)Myotonic Dystrophy Type 1 (DM1)AdultPepGen IncActive, Open for recruitmentDr. Hanns Lochmüller
A Randomized, Blinded, Placebo-Controlled, Phase 1 Single Ascending Dose Study in Healthy Adult Male Volunteers and an Open-Label Multiple Ascending Dose Study in Pediatric SMA Participants Previously Treated with Onasemnogene Abeparvovec (Zolgensma™) to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115Spinal muscular atrophy (SMA)PediatricBiogen Idec Research LimitedActive, Open for recruitmentDr. Hugh McMillan
A Phase 3, multicentre, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of PF-06939926 for the treatment of Duchenne Muscular Dystrophy.Duchenne Muscular Dystrophy (DMD)PediatricPfizerActive, Closed for recruitmentDr. Hanns Lochmüller
A Phase II Open-Label, Multiple Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Vamorolone in Boys Ages 2 to <4 Years and 7 to <18 Years With Duchenne Muscular Dystrophy (DMD)Duchenne Muscular Dystrophy (DMD)PediatricReveraGen/SantheraActive, Closed for recruitmentDr. Hanns Lochmüller
A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD) with Open-Label Extension (OLE)Facioscapulohumeral Muscular Dystrophy (FSHD)AdultFulcrum TherapeuticsActive, Closed for recruitmentDr. Hanns Lochmüller
A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD)Facioscapulohumeral Muscular Dystrophy (FSHD)AdultFulcrum TherapeuticsActive, Closed for recruitmentDr. Hanns Lochmüller
Phase 1/​2 Study of AOC 1020 in Adults With Facioscapulohumeral Muscular Dystrophy (FSHD) (FORTITUDE)Facioscapulohumeral Muscular Dystrophy (FSHD)AdultAvidityActive, Closed for recruitmentDr. Hanns Lochmüller
A Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A)Charcot-Marie-Tooth Type 1A (CMT)AdultPharnextCompleted, Results pendingDr. Hanns Lochmüller
A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents with Congenital Myotonic Dystrophy (REACH CDM)Congenital Myotonic DystrophyPediatricAMO Pharma LtdCompleted, Results pendingDr. Hanns Lochmüller
A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular DystrophyDuchenne Muscular Dystrophy (DMD)PediatricSarepta Therapeutics, Inc.Completed, Results pendingDr. Hanns Lochmüller
An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation DystrophinopathyDuchenne Muscular Dystrophy (DMD)PediatricPTC TherapeuticsCompleted, Results pendingDr. Hanns Lochmüller
A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients with Myotonic Dystrophy Type 1, Followed by an Open-Label Extension.Myotonic Dystrophy Type 1 (DM1)AdultHarmony BiosciencesCompleted, Results pendingDr. Hanns Lochmüller

Relevant Publications

Landfeldt, E, Alemán, A, Abner, S, Zhang, R, Werner, C, Tomazos, I et al.. Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. J Neuromuscul Dis. 2024.11 (3)579-612 PMID:38669554

Tawil, R, Wagner, KR, Hamel, JI, Leung, DG, Statland, JM, Wang, LH et al.. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial. Lancet Neurol. 2024.23 (5)477-486 PMID:38631764

Schwartz, O, Vill, K, Pfaffenlehner, M, Behrens, M, Weiß, C, Johannsen, J et al.. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024.178 (6)540-547 PMID:38587854

Vill, K, Tacke, M, König, A, Baumann, M, Baumgartner, M, Steinbach, M et al.. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. J Neurol. 2024.271 (5)2787-2797 PMID:38409538

Weisburd, B, Sharma, R, Pata, V, Reimand, T, Ganesh, VS, Austin-Tse, C et al.. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv. 2024. PMID:38405995

Günther, R, Wurster, CD, Brakemeier, S, Osmanovic, A, Schreiber-Katz, O, Petri, S et al.. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Eur. 2024.39 100862 PMID:38361750

Baskar, D, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S, Töpf, A et al.. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurol Genet. 2024.10 (1)e200122 PMID:38229919

Landfeldt, E, Phung, K, Zaman, F, Åström, E, Abner, S, Lochmüller, H et al.. Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence. Neurology. 2024.102 (2)e207948 PMID:38165327

Lochmüller, H, Behin, A, Caraco, Y, Lau, H, Mirabella, M, Tournev, I et al.. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. Neurology. 2019.92 (18)e2109-e2117 PMID:31036580

Okkersen, K, Jimenez-Moreno, C, Wenninger, S, Daidj, F, Glennon, J, Cumming, S et al.. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurol. 2018.17 (8)671-680 PMID:29934199

Koeks, Z, Bladen, CL, Salgado, D, van Zwet, E, Pogoryelova, O, McMacken, G et al.. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017.4 (4)293-306 PMID:29125504