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.

Hanns is a highly experienced investigator who has led multiple academic and commercially sponsored clinical research studies in Europe.

We are involved in clinical research at both CHEO (for pediatric studies) and TOH (for adult studies). In 2018 a new neuromuscular research centre opened at the Ottawa Hospital’s Civic Campus, and this provides a state-of-the-art trial facility which will increase the number of trials open to neuromuscular patients from Ottawa and the surrounding area.

Read the press release about the centre launch

Current Trials

NCT04003974 – A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 24-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD)

Role of Dr. Lochmuller: Principal Investigator (Ottawa)
Sponsor: Fulcrum Therapeutics

NCT03692312 – 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)

Role of Dr. Lochmuller: Principal Investigator (Ottawa)
Sponsor: AMO Pharma Limited

NCT04281485 – 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.

Role of Dr. Lochmuller: Principal Investigator (Ottawa)
Sponsor: Pfizer

NCT02500381 - 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 Dystrophy

Role of Dr. Lochmuller: Principal Investigator (Ottawa)
Sponsor: Sarepta Therapeutics, Inc.

NCT03179631- A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension

Role of Dr. Lochmuller: Principal Investigator (Ottawa)
Sponsor: PTC Therapeutics

NCT04990388 - A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind, Placebo-controlled) of UX053 in Patients with GSD III

Role of Dr. Lochmuller: Principal Investigator (Ottawa)
Sponsor: Ultragenyx Pharmaceutical Inc

NCT05185622 - 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)
Role of Dr. Lochmuller: Principal Investigator (Ottawa)
Sponsor: ReveraGen BioPharma, Inc.
Previous Trial Experience

NCT02736188: A Phase 3b Open-label Extension Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients with GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
Role Dr Lochmüller: Chief Investigator
Sponsor: Ultragenyx Pharmaceutical Inc

NCT02377921: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
Role Dr Lochmüller: Chief Investigator (Global)
Sponsor: Ultragenyx Pharmaceutical Inc

NCT01784679: GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
Role Dr Lochmüller: Chief Investigator (UK)
Sponsor: Ultragenyx Pharmaceutical Inc

NCT01302600: Phase II, Multicenter, Randomized, Adaptive, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Year Old Spinal Muscular Atrophy (SMA) Patients.
Role Dr Lochmüller: Principal Investigator (Newcastle)
Sponsor: Trophos

NCT02628743 – Multicenter, Open-Label, Single Arm Study to Evaluate Long-term Safety, Tolerability, and Effectiveness of 10 mg/kg Olesoxime in Patients With SMA
Role Dr Lochmüller: Chief Investigator (UK)
Sponsor: Hoffmann-La Roche

NCT02240355 – A Multicenter, Randomized, Double Blind, Placebo Controlled, Multiple Dose Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RO6885247 Following 12 Weeks of Treatment in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH)
Role Dr Lochmüller: Chief Investigator (UK)
Sponsor: Hoffmann-La Roche

NCT02118779 – Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration (OPTIMISTIC)
Role Dr Lochmüller: Principal Investigator (Newcastle)
Sponsor: Radboud University

NCT00527228 – Deflazacort in Dysferlinopathies (LGMD2B/MM) – a Double Blind, Placebo-controlled Clinical Study
Role Dr Lochmüller: Principal Investigator
Sponsor: Ludwig-Maximilians – University of Munich

NCT02831504– Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalized medicine and assist in the planning, design and recruitment of clinical trials
Role Dr Lochmüller:  Principal Investigator (Newcastle)
Sponsor: Newcastle upon Tyne Hospitals NHS Foundation Trust

NCT02858908 – Tideglusib (GSK3b inhibitor) in early-onset myotonic dystrophy
A Single-Blind, Phase 2 Study To Evaluate The Safety And Efficacy Of Tideglusib 400mg Or 1000mg For The Treatment Of Adolescent And Adult Congenital And Juvenile-Onset Myotonic Dystrophy
Role Dr Lochmüller: Chief Investigator (Newcastle)
Sponsor: AMO Pharma Ltd.

 

If you are a patient 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.

wheelchair

Relevant publications

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, Naarden, The Netherlands. Neuromuscul Disord. 2022. 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. 2022. 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

Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis. 2022.17 (1)384 PMID:36274155

Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Stein, S, Vogt, S et al.. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2022. PMID:35857854

van der Knoop, MM, Maroofian, R, Fukata, Y, van Ierland, Y, Karimiani, EG, Lehesjoki, AE et al.. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain. 2022.145 (7)2301-2312 PMID:35373813

Jennings, MJ, Kagiava, A, Vendredy, L, Spaulding, EL, Stavrou, M, Hathazi, D et al.. NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. Brain. 2022.145 (11)3999-4015 PMID:35148379

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