Neuromuscular Diseases
Current trials in the Department.
| Title | PI | Phase | Type |
|---|---|---|---|
| Open-label Extension of the ARGX-113-1802 Trial to Investigate the Long-term Safety, Tolerability, and Efficacy of Efgartigimod PH20 SC in Patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) | Dr Aisling Carr | Phase II | Commercial portfolio |
| A retrospective chart review to understand standard of care in patients receiving Ig treatment for CIDP in the UK | Dr Aisling Carr | Not Applicable | Commercial portfolio |
| Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) | Dr Chris Turner | Not Applicable | Non-commercial portfolio |
| 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 | Dr Chris Turner | Phase II | Commercial portfolio |
| A Phase 1 Placebo-Controlled Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single-Ascending Doses of PGN-EDODM1 in Adult Participants with Myotonic Dystrophy Type 1 (FREEDOM-DM1) | Dr Chris Turner | Phase I | Commercial portfolio |
| A Phase 1/2, Randomized, Double-blind, Placebo-controlled Single- and Multiple-dose Escalation Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VX-670 in Adult Subjects with Myotonic Dystrophy Type 1 | Dr Chris Turner | Phase I/II | Commercial portfolio |
| A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Multiple-Ascending Dose Study of PGN-EDODM1 in Adult Participants with Myotonic Dystrophy Type 1 (FREEDOM2-DM1) | Dr Chris Turner | Phase II | Commercial portfolio |
| A Phase 3 Randomized, Double-Blind, PlaceboControlled, Global Study to Evaluate the Efficacy and Safety of Intravenous AOC 1001 for the Treatment of Myotonic Dystrophy Type 1 | Dr Chris Turner | Phase III | Commercial portfolio |
| A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Once Daily Mexiletine PR During 26 Weeks of Treatment in Patients with Myotonic Dystrophy Type 1 and Type 2 | Dr Chris Turner | Phase III | Commercial portfolio |
| An Open-label Extension Study Evaluating the Long-term Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of VX-670 in Adult Subjects with Myotonic Dystrophy Type I | Dr Chris Turner | Phase I/II | Commercial portfolio |
| Remote assessment of Parkinsonism supporting ongoing development of interventions in Gaucher’s disease | Dr Elaine Murphy | Not Applicable | Non-commercial portfolio |
| An Observational Disease and Clinical Outcomes Registry of Patients with Lysosomal Acid Lipase (LAL) Deficiency | Dr Elaine Murphy | Not Applicable | Commercial portfolio |
| European registry and network for intoxication type metabolic diseases | Dr Elaine Murphy | Not Applicable | Non-commercial non-portfolio |
| An international, multicentre, prospective, non-interventional observational registry for patients with X-linked hypophosphatemia (XLH) | Dr Elaine Murphy | Not Applicable | Commercial portfolio |
| European Galactosemia Network Patient Registry (GalNET) (Version 1) | Dr Elaine Murphy | Not Applicable | Non-commercial non-portfolio |
| Investigating the natural history of X-linked hypophosphataemic rickets: cohort based study. | Dr Elaine Murphy | Not Applicable | Non-commercial non-portfolio |
| A Phase 1/2 Multiple Ascending-Dose Study in Subjects With Homocystinuria Due to Cystathionine β-Synthase (CBS) Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of ACN00177 | Dr Elaine Murphy | Phase I/II | Commercial portfolio |
| Longitudinal study of aerobic capacity and skeletal muscle characteristics in patients with rare inherited metabolic disorders (IMD) | Dr Elaine Murphy | Not Applicable | Non-commercial non-portfolio |
| Multi-omics study in citrin deficiency for characterization of disease-specific metabolites and biomarker identification | Dr Elaine Murphy | Not Applicable | Non-commercial non-portfolio |
| Observational study to evaluate body composition in adults with inherited metabolic disorders | Dr Elaine Murphy | Not Applicable | Non-commercial non-portfolio |
| 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 | Dr Enrico Bugiardini | Phase II | Commercial portfolio |
| 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 | Dr Enrico Bugiardini | Phase III | Commercial portfolio |
| 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) | Dr Enrico Bugiardini | Phase I/II | Commercial portfolio |
| A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, Efficacy, and Pharmacokinetics of AOC 1020 Administered Intravenously to Adult Participants with Facioscapulohumeral Muscular Dystrophy (FSHD) | Dr Enrico Bugiardini | Phase II | Commercial portfolio |
| Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD | Dr Enrico Bugiardini | Not Applicable | Non-commercial non-portfolio |
| Exploring muscle structure, function and gait patterns in people with Distal Hereditary Motor Neuropathy: natural history and the effect of rehabilitation interventions | Dr Gita Ramdharry | Not Applicable | Non-commercial non-portfolio |
| Frequency and circumstances of falls in people with Spinal and Bulbar Muscular Atrophy | Dr Gita Ramdharry | Not Applicable | Non-commercial non-portfolio |
| Exploring the impact of balance and falls in people with Spinal Bulbar Muscular Atrophy | Dr Gita Ramdharry | Not Applicable | Non-commercial non-portfolio |
| Implementation of an artificial intelligence module on the online imaging portal MYO-Share for guiding the diagnosis of muscle disease | Dr Jasper Morrow | Not Applicable | Non-commercial non-portfolio |
| The Creation of a UK Myasthenia Database | Dr Jennifer Spillane | Not Applicable | Non-commercial non-portfolio |
| Identification of antigen processing independent epitopes for developing antigen specific immunotherapy in myasthenia gravis | Dr Jennifer Spillane | Not Applicable | Non-commercial portfolio |
| Monitoring Dysphagia Progression in Myotonic Dystrophy Type 1: Insights from Ultrasound Swallowing Measures. | Dr Jodi Allen | Not Applicable | Non-commercial non-portfolio |
| MND Register for England, Wales and Northern Ireland | Dr Katie Sidle | Not Applicable | Non-commercial portfolio |
| Adult SMA REACH: Development and implementation of a standardised data set and data collection research study in the UK Adult SMA population | Dr Matthew Parton | Not Applicable | Non-commercial portfolio |
| Next Generation Genetic Screening in Motor Neuron Disease | Dr Pietro Fratta | Not Applicable | Non-commercial portfolio |
| Developing a patient decision aid for genetic testing in motor neuron disease (MND) | Dr Pietro Fratta | Not Applicable | Non-commercial portfolio |
| A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of NIDO-361 in Patients with Spinal and Bulbar Muscular Atrophy (SBMA) | Dr Pietro Fratta | Phase II | Commercial portfolio |
| Natural history study of Spinal and Bulbar Muscular Atrophy | Dr Pietro Fratta | Not Applicable | Non-commercial non-portfolio |
| A randomised controlled trial of acceptance and COMmitment therapy for people with Motor nEuroN Disease (COMMEND) | Dr Richard Orrell | Not Applicable | Non-commercial portfolio |
| 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) | Dr Robert Pitceathly | Phase III | Commercial portfolio |
| Development of a patient reported outcome measure (PROM) for patients with inherited optic neuropathy (ION) | Dr Robert Pitceathly | Not Applicable | Non-commercial portfolio |
| A randomized, double-blind, placebo-controlled crossover study evaluating the efficacy and safety of zagociguat in participants with MELAS | Dr Robert Pitceathly | Phase II | Commercial portfolio |
| 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 | Dr Robert Pitceathly | Phase II | Commercial portfolio |
| Mechanisms underlying long-term fatigue and exercise intolerance following CoV-2 infection | Dr Ronan Astin | Not Applicable | Non-commercial non-portfolio |
| Cognitive assessment of Phenylketonuria: Comparing outcomes across developmental ages | Lynne Aitkenhead | Not Applicable | Non-commercial portfolio |
| Development and acceptability of wearable technology to optimise balance and functional outcomes in people with Mitochondrial Disease who participate in unsupervised activity | Miss Sarah Holmes | Not Applicable | Non-commercial portfolio |
| Investigating the genetic basis of nutritional optic and sensory neuropathy in African and Caribbean communities in the UK | Mr Alex Rossor | Not Applicable | Non-commercial portfolio |
| Characterisation of a panel of disease biomarkers in peripheral blood from individuals with amyotrophic lateral sclerosis/motor neuron disease | Prof Andrea Malaspina | Not Applicable | Non-commercial portfolio |
| 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) | Prof Andrea Malaspina | Phase III | Commercial portfolio |
| 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) | Prof Andrea Malaspina | Phase III | Commercial portfolio |
| Motor Neurone Disease Systematic Multi-arm Adaptive Randomised Trial (MND-SMART) | Prof Andrea Malaspina | Phase II/III | Non-commercial portfolio |
| OptiCALS: A Randomised Controlled Trial with parallel Process Evaluation and Health Economic analysis to evaluate a nutritional management intervention, OptiCALS, for patients with Amyotrophic Lateral Sclerosis | Prof Andrea Malaspina | Not Applicable | Non-commercial portfolio |
| RANDOMISED DOUBLE-BLIND PLACEBO-CONTROLLED PHASE 3 TRIAL OF TRIUMEQ IN AMYOTROPHIC LATERAL SCLEROSIS | Prof Andrea Malaspina | Phase III | Non-commercial portfolio |
| A multi-center, randomized, double-blind, placebo-controlled multiple-ascending dose study to evaluate the safety and tolerability of QRL-201 in Amyotrophic Lateral Sclerosis | Prof Andrea Malaspina | Phase I | Commercial portfolio |
| EXPErimental medicine Route To Success in Amyotrophic Lateral Sclerosis (EXPERTS-ALS) | Prof Andrea Malaspina | Phase II | Non-commercial portfolio |
| A phase 2, randomized, double-blind, placebo-controlled parallel group study of VHB937 in Amyotrophic Lateral Sclerosis (ALS) over 40 weeks followed by an Open-label Extension (ASTRALS) | Prof Andrea Malaspina | Phase II/III | Commercial portfolio |
| Exploring the Physical and Psychological Experiences of MND Drug Treatments An Qualitative Exploration from the Perspective of People Living with MND. | Prof Andrea Malaspina | Not Applicable | Non-commercial portfolio |
| 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 | Prof Henry Houlden | Not Applicable | Non-commercial portfolio |
| Charcot-Marie-Tooth Disease and Related Disorders: A Natural History Study | Prof Mary Reilly | Not Applicable | Non-commercial portfolio |
| Preventable Axon Degeneration In Human Disease | Prof Mary Reilly | Not Applicable | Non-commercial portfolio |
| Investigating Biomarkers for Trial Readiness in Charcot Marie Tooth Disease 1A: a Prospective Cohort Study | Prof Mary Reilly | Not Applicable | Non-commercial portfolio |
| Medical Research Council Centre for the Neuromuscular diseases: Mitochondrial disease patient cohort study | Prof Michael Hanna | Not Applicable | Non-commercial portfolio |
| Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis (IBM) International - IBM Consortium Genetic Study | Prof Michael Hanna | Not Applicable | Non-commercial portfolio |
| Investigation of human neurological ion channel or episodic neurological disorders | Prof Michael Hanna | Not Applicable | Non-commercial portfolio |
| Investigation of nuclear and mitochondrial genes underlying mitochondrial and muscle-related genetic diseases | Prof Michael Hanna | Not Applicable | Non-commercial non-portfolio |
| Setting up of a rare diseases biological samples bank (biobank) for research to facilitate pharmacological, gene and cell therapy trials in neuromuscular disorders (NMD) | Prof Michael Hanna | Not Applicable | Non-commercial non-portfolio |
| Magnetic Resonance Imaging as an outcome measure in Motor Neuropathies | Prof Michael Hanna | Not Applicable | Non-commercial non-portfolio |
| [11C]PK11195 PET as a biomarker to diagnose and monitor natural history in mitochondrial disease | Prof Michael Hanna | Not Applicable | Non-commercial non-portfolio |
| Genetic, transcriptomic and proteomic alterations in inclusion body myositis | Prof Michael Hanna | Not Applicable | Non-commercial non-portfolio |
| INTERNATIONAL CENTRE FOR GENOMIC MEDICINE IN NEUROMUSCULAR DISEASES (ICGNND) | Prof Michael Hanna | Not Applicable | Non-commercial portfolio |
| A Phase 3, Randomised, Placebo-Controlled Trial of Arimoclomol in Amyotrophic Lateral Sclerosis | Prof Michael Hanna | Phase III | Commercial portfolio |
| LILY PRECISION DIAGNOSTICS PROJECT | Prof Michael Hanna | Not Applicable | Non-commercial portfolio |
| Investigations into the possible antibody mediated causes of idiopathic sensory ganglionopathy | Prof Michael Lunn | Not Applicable | Non-commercial non-portfolio |
| 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 | Prof Michael Lunn | Not Applicable | Non-commercial non-portfolio |
| The use of neurofilament light chain and novel peripheral nerve biomarkers to predict the development and severity of chemotherapy-induced peripheral neuropathy | Prof Michael Lunn | Not Applicable | Non-commercial portfolio |
| A UK-wide study of paediatric-onset chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) epidemiology, clinical presentation and outcomes. | Prof Michael Lunn | Not Applicable | Non-commercial non-portfolio |
| The Natural History of Inclusion Body Myositis | Prof Pedro Machado | Not Applicable | Non-commercial portfolio |
| 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 | Prof Pedro Machado | Not Applicable | Non-commercial portfolio |
| 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 | Prof Pedro Machado | Phase II/III | Commercial portfolio |
| The MyoScreen Study - Investigating the Utility of Liquid Biopsy as a Method of Early Detection of Idiopathic Inflammatory Myopathy-Associated Cancer | Prof Pedro Machado | Not Applicable | Non-commercial portfolio |
| A Phase 1/2, Open-Label Study to Evaluate the Safety and Efficacy of Autologous CD19-specific Chimeric Antigen Receptor T cells (CABA-201) in Subjects with Active Idiopathic Inflammatory Myopathy | Prof Pedro Machado | Phase I/II | Commercial portfolio |
| CYTB323;12201: A Phase 2, randomized, open-label, controlled study to evaluate the efficacy and safety of YTB323 versus comparator in participants with severe refractory idiopathic inflammatory myopathies. | Prof Pedro Machado | Phase II | Commercial portfolio |
| 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) | Prof Rosaline Quinlivan | Phase I | Commercial portfolio |
| “An Open-Label Extension Study to Assess the Long-term Effect of EDG-5506 on Safety, Biomarkers, and Functional Measures in Adults and Adolescents with Becker Muscular Dystrophy “ | Prof Rosaline Quinlivan | Phase II | Commercial portfolio |