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 NumberTrial NameSponsorDiseaseRecruitment StatusPIPopulation
NCT06204809Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1 (FREEDOM-DM1)PepGen IncMyotonic Dystrophy Type 1Active, Open for recruitmentDr. Hanns LochmüllerAdult
NCT06078553A Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes (CMS)ArgenxCongenital Myasthenic SyndromesActive, Open for recruitmentDr. Hanns LochmüllerAdult
NCT06079736A Study Of PGN-EDO51 In Participants With Duchene Muscular Dystrophy Amenable To Exon 51-Skipping Treatment (CONNECT1-EDO51)PepGen IncDuchenne Muscular Dystrophy (DMD)Active, Open for recruitmentDr. Hugh McMillanPediatric
NCT05185622A 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)ReveraGen/SantheraDuchenne Muscular Dystrophy (DMD)Active, Open for recruitmentDr. Hanns LochmüllerPediatric
NCT05524883Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping (DELIVER)DyneDuchenne Muscular Dystrophy (DMD)Active, Open for recruitmentDr. Hugh McMillanPediatric
NCT05747924Phase 1/​2 Study of AOC 1020 in Adults With Facioscapulohumeral Muscular Dystrophy (FSHD) (FORTITUDE)AvidityFacioscapulohumeral Muscular Dystrophy (FSHD)Active, Open for recruitmentDr. Hanns LochmüllerAdult
NCT05523167A Study to Investigate the Efficacy and Safety of Efgartigimod PH20 SC in Adult Participants With Active Idiopathic Inflammatory Myopathy. (ALKIVIA)ArgenxIdiopathic Inflammatory MyopathyActive, Open for recruitmentDr. Hanns LochmüllerAdult
NCT04635891Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) - Natural History StudyUniversity of Kansas Medical CenterFacioscapulohumeral Muscular Dystrophy (FSHD)Active, Open for recruitmentDr. Hanns LochmüllerAdult
NCT04281485A 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.PfizerDuchenne Muscular Dystrophy (DMD)Active, Closed for recruitmentDr. Hanns LochmüllerPediatric
NCT05397470A 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)Fulcrum TherapeuticsFacioscapulohumeral Muscular Dystrophy (FSHD)Active, Closed for recruitmentDr. Hanns LochmüllerAdult
NCT04003974A 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)Fulcrum TherapeuticsFacioscapulohumeral Muscular Dystrophy (FSHD)Active, Closed for recruitmentDr. Hanns LochmüllerAdult
NCT04886518A 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.Harmony BiosciencesMyotonic Dystrophy Type 1 (DM1)Completed, Results pendingDr. Hanns LochmüllerAdult
NCT02500381A 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 DystrophySarepta Therapeutics, Inc.Duchenne Muscular Dystrophy (DMD)Completed, Results pendingDr. Hanns LochmüllerPediatric
NCT04762758A 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)PharnextCharcot-Marie-Tooth Type 1ACompleted, Results pendingDr. Hanns LochmüllerAdult
NCT01247207An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation DystrophinopathyPTC TherapeuticsDuchenne Muscular Dystrophy (DMD)Completed, Results pendingDr. Hanns LochmüllerPediatric
NCT03692312A 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)AMO Pharma LimitedCongenital Myotonic DystrophyCompleted, Results pendingDr. Hanns LochmüllerPediatric

Relevant Publications

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

Landfeldt, E, Aleman, A, Abner, S, Zhang, R, Werner, C, Tomazos, I et al.. Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading. J Neuromuscul Dis. 2024.11 (1)25-57 PMID:37980679

Polavarapu, K, Sunitha, B, Töpf, A, Preethish-Kumar, V, Thompson, R, Vengalil, S et al.. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain. 2024.147 (1)281-296 PMID:37721175

Walter, MC, Laforêt, P, van der Pol, WL, Pegoraro, E, 254th ENMC Workshop Study Group. 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022. Neuromuscul Disord. 2023.33 (6)511-522 PMID:37245491

Pugliese, A, Holland, SH, Rodolico, C, Lochmüller, H, Spendiff, S. Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models. J Neuromuscul Dis. 2023.10 (5)731-759 PMID:37212067

Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023.14 (1)1009 PMID:36823193

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