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

Spendiff, S, Howarth, R, McMacken, G, Davey, T, Quinlan, K, O'Connor, E et al.. Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome. Front Mol Neurosci. 2020.13 594220 PMID:33390901

Della Marina, A, Wibbeler, E, Abicht, A, Kölbel, H, Lochmüller, H, Roos, A et al.. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study. Front Hum Neurosci. 2020.14 560860 PMID:33364925

Horrigan, J, Gomes, TB, Snape, M, Nikolenko, N, McMorn, A, Evans, S et al.. A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1). Pediatr Neurol. 2020.112 84-93 PMID:32942085

Hodgkinson, VL, Oskoui, M, Lounsberry, J, M'Dahoma, S, Butler, E, Campbell, C et al.. A National Spinal Muscular Atrophy Registry for Real-World Evidence. Can J Neurol Sci. 2020.47 (6)810-815 PMID:32493524

Yaramis, A, Lochmüller, H, Töpf, A, Sonmezler, E, Yilmaz, E, Hiz, S et al.. COL4A1-related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet. 2020.6 (1)e392 PMID:32042920

Nilipour, Y, Fatehi, F, Sanatinia, S, Bradshaw, A, Duff, J, Lochmüller, H et al.. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. J Neurol Sci. 2020.411 116707 PMID:32007756

Signorelli, M, Ayoglu, B, Johansson, C, Lochmüller, H, Straub, V, Muntoni, F et al.. Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2020.11 (2)505-517 PMID:31881125

Higgs, C, Hilbert, JE, Wood, L, Martens, WB, Marini-Bettolo, C, Nikolenko, N et al.. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Front Neurol. 2019.10 1071 PMID:31681146

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