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

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.



Relevant publications

O'Connor, E, Cairns, G, Spendiff, S, Burns, D, Hettwer, S, Mäder, A et al.. Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish. Cells. 2019.8 (8) PMID:31394789

König, K, Pechmann, A, Thiele, S, Walter, MC, Schorling, D, Tassoni, A et al.. De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany. Orphanet J Rare Dis. 2019.14 (1)152 PMID:31234869

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

Lochmüller, H, Ambrosini, A, van Engelen, B, Hansson, M, Tibben, A, Breukel, A et al.. The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018. J Neuromuscul Dis. .6 (1)161-172 PMID:30714970

Pechmann, A, König, K, Bernert, G, Schachtrup, K, Schara, U, Schorling, D et al.. SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. 2019.14 (1)18 PMID:30665421

Crow, RA, Hart, KA, McDermott, MP, Tawil, R, Martens, WB, Herr, BE et al.. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018.19 (1)291 PMID:29793540

Estephan, EP, Sobreira, CFDR, Dos Santos, ACJ, Tomaselli, PJ, Marques, W Jr, Ortega, RPM et al.. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. J. Neurol. 2018.265 (3)708-713 PMID:29383513

Lourbakos, A, Yau, N, de Bruijn, P, Hiller, M, Kozaczynska, K, Jean-Baptiste, R et al.. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Sci Rep. 2017.7 (1)17888 PMID:29263366

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. .4 (4)293-306 PMID:29125504