Neuromuscular Diseases
Current trials in the Department.
| Short title | Long title | PI | Phase | Type |
|---|---|---|---|---|
| Ultrasound to detect vocal fold movement in neurological disease | A feasibility study to investigate the accuracy and viability of ultrasound in detecting impairments of vocal fold mobility in people with neurological disease | Allen, Dr Jodi | Not Applicable | Non-commercial non-portfolio |
| Skeletal Muscle Dysfunction in Aortic Stenosis | Investigating Skeletal Muscle Dysfunction in Aortic Stenosis | Astin, Dr Ronan | Not Applicable | Non-commercial non-portfolio |
| ReSolve v.1.1 | Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD | Bugiardini, Dr Enrico | Not Applicable | Non-commercial non-portfolio |
| 1821-FSH-301 | A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Patients with Facioscapulohumeral Muscular Dystrophy | Bugiardini, Dr Enrico | Phase III | Commercial portfolio |
| ADHERE | A Phase 2 Trial to Investigate the Efficacy, Safety, and Tolerability of Efgartigimod PH20 SC in Adult Patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) | Carr, Dr Aisling | Phase II | Commercial portfolio |
| ARDA | A Phase 2, Randomized, Double-Blinded, Placebo-Controlled, Parallel-Group, Multicenter Trial to Evaluate the Safety and Tolerability, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of 2 Dose Regimens of ARGX-117 in Adults With Multifocal Motor Neuropathy | Carr, Dr Aisling | Phase II | Commercial portfolio |
| SORD | A RandomIzed, Double-Blind, Placebo-CoNtrolled, Two-Part Study to Evaluate the Pharmacodynamic EffIcacy and Clinical Benefit of AT 007 in Patients with SoRbitol Dehydrogenase (SORD) Deficiency. | Cortese, Dr Andrea | Commercial portfolio | |
| SBMA Natural history study | Natural history study of Spinal and Bulbar Muscular Atrophy | Fratta, Dr Pietro | Not Applicable | Non-commercial non-portfolio |
| MND GENETICS | Next Generation Genetic Screening in Motor Neuron Disease | Fratta, Dr Pietro | Not Applicable | Non-commercial portfolio |
| A Multicentre Biomarker Study in Neurodegeneration | A Multicentre Biomarker Study in Neurodegeneration | Fratta, Dr Pietro | Not Applicable | Non-commercial portfolio |
| Investigation of human ion channel disorders | Investigation of human neurological ion channel or episodic neurological disorders | Hanna, Prof Michael | Not Applicable | Non-commercial portfolio |
| Molecular mechanisms in mitochondrial disease | Investigation of nuclear and mitochondrial genes underlying mitochondrial and muscle-related genetic diseases | Hanna, Prof Michael | Pilot/Feasibility | Non-commercial non-portfolio |
| Biobank to facilitate future therapy of neuromuscular disorders. | Setting up of a rare diseases biological samples bank (biobank) for research to facilitate pharmacological, gene and cell therapy trials in neuromuscular disorders (NMD) | Hanna, Prof Michael | Not Applicable | Non-commercial non-portfolio |
| MRI in Motor Neuropathies V1 | Magnetic Resonance Imaging as an outcome measure in Motor Neuropathies | Hanna, Prof Michael | Not Applicable | |
| Molecular alterations in inclusion body myositis | Genetic, transcriptomic and proteomic alterations in inclusion body myositis | Hanna, Prof Michael | Not Applicable | Non-commercial non-portfolio |
| International Sporadic Inclusion Body Myositis Genetic Study | Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis (IBM) International - IBM Consortium Genetic Study | Hanna, Prof Michael | Not Applicable | Non-commercial portfolio |
| ICGNMD | INTERNATIONAL CENTRE FOR GENOMIC MEDICINE IN NEUROMUSCULAR DISEASES (ICGNND) | Hanna, Prof Michael | Not Applicable | Non-commercial portfolio |
| Mitocohort | Medical Research Council Centre for the Neuromuscular diseases: Mitochondrial disease patient cohort study | Hanna, Prof Michael | Not Applicable | Non-commercial portfolio |
| Lupin PASS study | An Observational Study to Describe the Long-term Safety and Effectiveness of Namuscla in the Symptomatic Management of Myotonia in Adult Patients with Non-dystrophic Myotonic Disorders | Hanna, Prof Michael | Not Applicable | Commercial non-portfolio |
| mitoPK | [11C]PK11195 PET as a biomarker to diagnose and monitor natural history in mitochondrial disease | Hanna, Prof Michael | Not Applicable | Non-commercial non-portfolio |
| Nicotinamide Riboside in mitochondrial biogenesis | To study the role of nicotinamide riboside in inducing mitochondrial biogenesis | Hanna, Prof Michael | Not Applicable | Non-commercial portfolio |
| Activity & sedentary behaviour in channelopathy and Myotonic Dystrophy | Measuring activity and sedentary behaviour in people with Muscle Ion Channelopathy and Myotonic Dystrophy type 1, and assessing the use of individual goal setting to support increasing habitual physical activity activity. | Holmes, Miss Sarah | Not Applicable | Non-commercial non-portfolio |
| UK register for hereditary spastic paraplegia | UK register for hereditary spastic paraplegia | Houlden, Prof Henry | Not Applicable | Non-commercial portfolio |
| International Genetics Collaboration (IGC) | International Genetics Collaboration (IGC): An observational study in the UK only, with international collaborators, to identify disease genes, genetic and COVID-19 risk factors, disease biomarkers and fundamental genetic mechanisms | Houlden, Prof Henry | Not Applicable | Non-commercial portfolio |
| MRI in Inflammatory Neuropathies | Diagnostic Magnetic Resonance Imaging Characteristics of Inflammatory Neuropathies | Lunn, Prof Michael | Not Applicable | Non-commercial portfolio |
| International Guillain–Barré Syndrome Outcome Study | Clinical and biological determinants of disease course in Guillain-Barré syndrome: a prospective UK-wide observational study interfacing with the International Guillain-Barré syndrome Outcome Study -IGOS. | Lunn, Prof Michael | Not Applicable | Non-commercial portfolio |
| Creation and validation of biomarkers in inflammatory neuropathies | A pilot study to develop and validate biomarkers to monitor disease progression in POEMS syndrome and inflammatory neuropathies using a disability scale designed using Rasch statistics and magnetic resonance imaging | Lunn, Prof Michael | Not Applicable | |
| Single molecule biomarker discovery in inflammatory neuropathy | A pilot study to identify ultra low concentration biomarkers in the serum of patients with inflammatory neuropathy using the ultrasensitive Single Molecule Analyser (SIMOA) apparatus | Lunn, Prof Michael | Study | Non-commercial non-portfolio |
| The pathogenesis of idiopathic sensory ganglionopathy | Investigations into the possible antibody mediated causes of idiopathic sensory ganglionopathy | Lunn, Prof Michael | Not Applicable | Non-commercial non-portfolio |
| OPTIC Trial | Intravenous immunoglobulin and intravenous methylprednisolone as optimal induction treatment in CIDP | Lunn, Prof Michael | Phase III | Non-commercial portfolio |
| Advanced metrology in axial spondyloarthritis (ANDROID) | An investigation into the responsiveness of Inertial Measurement Unit (IMU) sensor-based tests in measuring changes in spinal mobility and function in axial spondyloarthritis patients treated with biologic drugs | Machado, Dr Pedro | Not Applicable | Non-commercial portfolio |
| IBM Swallow | Evaluation of dysphagia in inclusion body myositis (IBM) | Machado, Dr Pedro | Not Applicable | Non-commercial non-portfolio |
| PHOENIX | Phase III, Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial to Evaluate the Safety and Efficacy of AMX0035 Versus Placebo for 48-week Treatment of Adult Patients with Amyotrophic Lateral Sclerosis (ALS) | Malaspina, Dr Andrea | Phase III | Commercial portfolio |
| Lighthouse II | RANDOMISED DOUBLE-BLIND PLACEBO-CONTROLLED PHASE 3 TRIAL OF TRIUMEQ IN AMYOTROPHIC LATERAL SCLEROSIS | Malaspina, Dr Andrea | Phase III | Non-commercial portfolio |
| MYO-Guide: a machine learning approach to the analysis of MRI | Implementation of an artificial intelligence module on the online imaging portal MYO-Share for guiding the diagnosis of muscle disease | Morrow, Dr Jasper | Not Applicable | Non-commercial non-portfolio |
| ALS Biomarkers Study | Characterisation of a panel of disease biomarkers in peripheral blood from individuals with amyotrophic lateral sclerosis/motor neuron disease | Malaspina, Dr Andrea | Not Applicable | Non-commercial portfolio |
| An RCT of ACT for people with MND | A randomised controlled trial of acceptance and COMmitment therapy for people with Motor nEuroN Disease (COMMEND) | Malaspina, Dr Andrea | Not Applicable | Non-commercial portfolio |
| Adult SMA REACH Study | Adult SMA REACH: Development and implementation of a standardised data set and data collection research study in the UK Adult SMA population | Parton, Dr Matthew | Not Applicable | Non-commercial portfolio |
| Clinical Trial Assessing KL1333 | A Randomised, Double-blind, Parallel-group, Placebo-controlled, Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 after a Single Oral Dose and Multiple Ascending Oral Doses in Healthy Subjects and Patients with Primary Mitochondrial Disease | Pitceathly, Dr Robert | Phase I | Commercial portfolio |
| Mitox study | The effects of oxygen in the context of mitochondrial dysfunction | Pitceathly, Dr Robert | Not Applicable | Non-commercial portfolio |
| Natural History Study of Pyruvate Dehydrogenase Deficiency | Natural History Study of Pyruvate Dehydrogenase Deficiency | Pitceathly, Dr Robert | Not Applicable | Non-commercial portfolio |
| Phase 2b Safety and Efficacy Study of REN001 in Mitochondrial Myopathy | A double-blind, placebo-controlled, study to evaluate the efficacy and safety of 24 weeks treatment with REN001 in patients with Primary Mitochondrial Myopathy (PMM) | Pitceathly, Dr Robert | Phase II | Commercial portfolio |
| ION-PROM | Development of a patient reported outcome measure (PROM) for patients with inherited optic neuropathy (ION) | Pitceathly, Dr Robert | Not Applicable | Non-commercial portfolio |
| 2020-104A - Abliva - Mitochondrial Disease | An interventional, randomised, double-blind, parallel-group, placebo-controlled, flexible-dose, adaptive study of the efficacy of KL1333 in adult patients with primary mitochondrial disease (PMD) | Pitceathly, Dr Robert | Phase III | Commercial portfolio |
| REN001-201-DXA, a sub-study of the STRIDE study | AN EXPLORATORY STUDY TO ASSESS CHANGE IN BONE MINERAL DENSITY (BMD) AFTER 24 WEEKS TREATMENT OF REN001 IN SUBJECTS TAKING PART IN THE STRIDE STUDY, USING DUAL-ENERGY X-RAY ABSORPTIOMETRY (DXA) | Pitceathly, Dr Robert | Phase II | Commercial portfolio |
| Open label study of REN001 in PMM subjects | An open label, multi-centre study to evaluate the long-term safety and tolerability of REN001 in subjects with primary mitochondrial myopathy (PMM) | Pitceathly, Dr Robert | Phase II | Commercial portfolio |
| A Phase 1b Open Label Study of REN001 in McArdle Disease | A PHASE 1B, OPEN-LABEL STUDY TO EVALUATETHE SAFETY AND TOLERABILITY OF 12 WEEKS TREATMENT WITH ORAL REN001 IN PATIENTS WITH MCARDLE DISEASE (GLYCOGEN STORAGE DISORDER TYPE 5) | Quinlivan, Prof Rosaline | Phase I | Commercial portfolio |
| A Natural History Study in Patients with Duchenne Muscular Dystrophy | A Natural History Study in Patients with Duchenne Muscular Dystrophy Managed in Routine Clinical Practice. | Quinlivan, Prof Rosaline | Not Applicable | Commercial portfolio |
| Rare Diseases Translational Research- DMD | Neuromuscular Rare Disease Translational Research in patients with Duchenne Muscular Dystrophy | Quinlivan, Prof Rosaline | Not Applicable | Non-commercial portfolio |
| MRI in McArdle Disease | Muscle MRI in patients with McArdle Disease (Glycogen storage disease type V) | Quinlivan, Prof Rosaline | Not Applicable | Non-commercial non-portfolio |
| Survey about urinary symptoms and renal function in adults with DMD | Survey about the prevalence of urinary symptoms and abnormal renal function in adults with Duchenne muscular dystrophy (DMD) who are on and off glucocorticoids (CSs) treatment | Quinlivan, Prof Rosaline | Not Applicable | Non-commercial non-portfolio |
| EDG5506BMD | A Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effect of EDG-5506 on Safety, Biomarkers, Pharmacokinetics, and Functional Measures in Adults and Adolescents with Becker Muscular Dystrophy | Quinlivan, Prof Rosaline | Phase II | Commercial portfolio |
| MRI and Gait in dHMN | Exploring muscle structure, function and gait patterns in people with Distal Hereditary Motor Neuropathy: natural history and the effect of rehabilitation interventions | Ramdharry, Dr Gita | Not Applicable | Non-commercial non-portfolio |
| Fatigue in individuals infected with SARS-Cov-2 | Identifying incidence and nature of Fatigue in Individuals infected with COVID-19 (SARS-Cov-2) in the United Kingdom | Ramdharry, Dr Gita | Not Applicable | Non-commercial non-portfolio |
| ADAPT-NMD study | ADAPT NMD: A hybrid II study of the feasibility and implementation of a self-management programme for people with neuromuscular diseases | Ramdharry, Dr Gita | Not Applicable | Non-commercial portfolio |
| Supporting Consultations in Remote Physiotherapy (SCiP) | Supporting Consultations in Remote Physiotherapy (SCiP): a mixed-methods study to develop guidance for video consultations in physiotherapy services | Ramdharry, Dr Gita | Not Applicable | Non-commercial non-portfolio |
| CMT: A Natural History Study | Charcot-Marie-Tooth Disease and Related Disorders: A Natural History Study | Reilly, Prof Mary | Not Applicable | Non-commercial portfolio |
| Preventable Axon Degeneration In Human Disease | Preventable Axon Degeneration In Human Disease | Reilly, Prof Mary | Not Applicable | Non-commercial portfolio |
| Muscle MRI in Charcot-Marie-Tooth Disease (CMT) | Muscle MRI in Charcot Marie Tooth Disease: a Prospective Cohort Study | Reilly, Prof Mary | Not Applicable | Non-commercial portfolio |
| CMT-TREAT-NMD-ID | Charcot Marie Tooth disease Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases International Database (CMT-TREAT-NMD-ID) | Reilly, Prof Mary | Not Applicable | Non-commercial non-portfolio |
| Endemic neuropathy in UK African and Caribbean communities | Investigating the genetic basis of nutritional optic and sensory neuropathy in African and Caribbean communities in the UK | Rossor, Mr Alex | Not Applicable | Non-commercial portfolio |
| MND Register for England, Wales and Northern Ireland | MND Register for England, Wales and Northern Ireland | Sidle, Dr Katie | Not Applicable | Non-commercial portfolio |
| Immune Profiles in Myasthenia Gravis | Comparison of lymphocyte subset, cytokine, and complement profiles in myasthenia gravis of different severity, disease time-points, and treatment history | Spillane, Dr Jennifer | Not Applicable | Non-commercial non-portfolio |
| Developing antigen specific immunotherapy for myasthenia gravis | Identification of antigen processing independent epitopes for developing antigen specific immunotherapy in myasthenia gravis | Spillane, Dr Jennifer | Not Applicable | Non-commercial portfolio |
| MEND: MExiletine versus lamotrigine in Non-Dystrophic myotonias | A phase III, randomised, double blinded, head-to-head, single-site, cross-over trial of lamotrigine versus mexiletine for non-dystrophic myotonias. | Vivekanandam, Dr Vinojini | Phase III | Non-commercial portfolio |
| END-DM1 | Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 | Turner, Dr Chris | Not Applicable | Non-commercial non-portfolio |
| DYNE101-DM1-201 | A Randomized, Placebo-Controlled, Multiple Ascending Dose Study Assessing Safety, Tolerability, Pharmacodynamics, Efficacy, and Pharmacokinetics of DYNE-101 Administered to Participants with Myotonic Dystrophy Type 1 | Turner, Dr Chris | Phase II | Commercial portfolio |
| A Phase 1/2 Study to Evaluate AOC 1020 in Adult Participants with FSHD | A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Adult Participants with Facioscapulohumeral Muscular Dystrophy (FSHD) | Bugiardini, Dr Enrico | Phase I/II | Commercial Portfolio |
| MANOEUVRE | A PHASE II, MULTICENTER, RANDOMIZED, PLACEBO-CONTROLLED, DOUBLE-BLIND STUDY TO EVALUATE THE PHARMACODYNAMICS, SAFETY, TOLERABILITY, PHARMACOKINETICS, AND EFFICACY OF RO7204239 IN PARTICIPANTS WITH FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY | Bugiardini, Dr Enrico | Phase II | Commercial portfolio |
| Neurotoxicity of immune checkpoint inhibitor therapy | Neurotoxicity of immune checkpoint inhibitor therapy: A UK-wide case series | Carr, Dr Aisling | Not applicable | Non-commercial Non-portfolio |
| A Phase II/III Study of ABC008 to Evaluate Efficacy and Safety in IBM | A Phase II/III Randomized, Double-blind, Placebo- controlled, Multicenter Study to Determine the Efficacy and Safety of ABC008 in the Treatment of Subjects with Inclusion Body Myositis | Machado, Dr Pedro | Phase II/III | Commercial, portfolio |
| NEPTUNIA | A Phase IIa, Randomized, Parallel, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of Enpatoran in Dermatomyositis and Polymyositis Participants receiving Standard of Care | Machado, Dr Pedro | Phase IIa | Commercial portfolio |
| The Natural History of Inclusion Body Myositis | The Natural History of Inclusion Body Myositis | Machado, Dr Pedro | Not applicable | Non-Commercial Portfolio |
| A Study of Nipocalimab in Participants with Active Idiopathic Inflammatory Myopathies | A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Nipocalimab in Participants with Active Idiopathic Inflammatory Myopathies | Machado, Dr Pedro | Phase II | Commercial portfolio |
| ARGX-113-2007 - Argenx SE - Myositis - 2682/0027 | A Phase 2/3, Randomized, Double-Blinded, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacodynamics, Pharmacokinetics, and Immunogenicity of Efgartigimod PH20 SC in Adult Participants With Active Idiopathic Inflammatory Myopathies | Machado, Dr Pedro | Phase II/III | Commercial portfolio |
| Phoenix OLE | A Phase IIIb, Open Label Extension Study Evaluating The Safety And Tolerability of AMX0035 Up To 108 Weeks In Adult Participants with Amyotrophic Lateral Sclerosis (ALS) Previously Enrolled In Study A35-004 (PHOENIX) | Malaspina, Dr Andrea | Phase IIIb | Commercial portfolio |
| MND SMART | Motor Neurone Disease Systematic Multi-Arm Adaptive Randomised Trial | Malaspina, Dr Andrea | Phase II/III | Non-commercial portfolio |
| 2020-104A - Abliva - Mitochondrial Disease | An interventional, randomised, double-blind, parallel-group, placebo-controlled, flexible-dose, adaptive study of the efficacy of KL1333 in adult patients with primary mitochondrial disease (PMD) | Pitceathly, Dr Robert | Phase III | Commercial portfolio |
| RYR1-RM Endpoints Study | An Observational Study in Participants with Ryanodine Receptor 1-Related Myopathies (RYR1-RM) to Determine Optimal Endpoint Measurements. | Quinlivan, Prof Rosaline | Not Application | Commercial portfolio |
| Sense | Randomised, double blind, placebo-controlled trial of L-serine in Hereditary Sensory Neuropathy type 1. | Reilly, Prof Mary | Phase II | Non-commercial portfolio |
| An inherited peripheral neuropathy database for the United Kingdom | A registry of patients with CMT in the UK who are willing to be contacted for ethically approved research projects. | Rossor, Dr. Alex | Not applicable | Non-commercial non-portfolio |
| Alexion | A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel, Multicenter Study to Evaluate the Safety and Efficacy of ALXN1720 in Adults with Generalized Myasthenia Gravis | Spillane, Dr Jennifer | Phase III | Commercial portfolio |
| CARE CDM | CArdio-REspiratory function in adult patients with Congenital Myotonic Dystrophy | Turner, Dr Chris | Not applicable | Non-commercial portfolio |