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.

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 paediatric trials in Ottawa. In 2022 pediatric neurologist and neuromuscular specialist Dr Hugh McMillan returned to CHEO after a period working in Montreal. Dr McMillan and Dr Lochmüller work closely together on pediatric neuromuscular research at CHEO, supported by neurologist Dr Alberto Aleman. This provides further opportunities for pediatric neuromuscular patients to participate in clinical trials. The research coordinators work as a joint team helping to run clinical studies for both doctors.

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

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.

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 NMD4C clinical trial concierge site to see how they can support you.

Current Trials

Trial NumberTrial NameSponsor/InstitutionDiseaseRecruitment StatusPIPopulation
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
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 DystrophyActive, Closed for recruitmentDr. Hanns LochmüllerPediatric
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 DystrophyActive, Closed for recruitmentDr. Hanns LochmüllerPediatric
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 DystrophyActive, Open for recruitmentDr. Hanns LochmüllerPediatric
NCT01247207An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation DystrophinopathyPTC TherapeuticsDuchenne Muscular DystrophyActive, Closed for recruitmentDr. Hanns LochmüllerPediatric
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 1Active, Closed for recruitmentDr. Hanns LochmüllerAdult
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 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 Active, Closed for recruitmentDr. Hanns LochmüllerAdult
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 1AActive, Closed for recruitmentDr. Hanns LochmüllerAdult

Relevant Publications

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

Saffari, A, Lau, T, Tajsharghi, H, Karimiani, EG, Kariminejad, A, Efthymiou, S et al.. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023.146 (8)3273-3288 PMID:36757831

Spendiff, S, Dong, Y, Maggi, L, Rodríguez Cruz, PM, Beeson, D, Lochmüller, H et al.. 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands. Neuromuscul Disord. 2023.33 (9)111-118 PMID:36609117

Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. J Neuromuscul Dis. 2023.10 (1)29-40 PMID:36565133

Landfeldt, E, Abner, S, Pechmann, A, Sejersen, T, McMillan, HJ, Lochmüller, H et al.. Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review. Pharmacoeconomics. 2023.41 (3)275-293 PMID:36515815

van Cruchten, RTP, van As, D, Glennon, JC, van Engelen, BGM, 't Hoen, PAC, OPTIMISTIC consortium et al.. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Med. 2022.20 (1)395 PMID:36352383

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