Adeno-associated viral (AAV) gene therapy is very rapidly progressing. Many AAV therapies are being tested in early and more advanced clinical trials, with some recently receiving European Medicines Agency (EMA) approval and becoming available under the NHS. In view of the progress in many of the ongoing clinical trials, it is anticipated that many more AAV gene therapy products will become available for patients currently receiving other, or no, therapies within the NHS.
The handling, administration, and clinical surveillance of patients receiving AAV gene therapy is different to other therapeutic interventions, especially regarding the potential for adverse events and how to best manage those. Several UK hospitals and biomedical research centres already have a wealth of knowledge and experience in running AAV gene therapy trials in several indications. But the availability of AAV gene therapy products for larger numbers of paediatric and adult patients with genetic conditions means it is necessary to build expertise on AAV in many other sites.
This meeting has been set up to address the unique challenges of AAV gene therapy, and provide practical suggestions on how these therapeutic interventions can best be delivered.
The target audience is primarily those in the delivery team in hospitals who are currently not involved in AAV gene therapy. This includes nurses, coordinators, pharmacists, physicians and other members of the MDT.
Professor of Paediatric Neurology and Theme Lead for Novel Therapies, Great Ormond Street Hospital
Francesco Muntoni is a Professor of Paediatric Neurology at Great Ormond Street Hospital (GOSH), with an interest in the clinical and molecular aspects of neuromuscular disorders. He is the Director of the Dubowitz Neuromuscular Centre – a leading clinical and research institution for children affected by neuromuscular disorders – and is Theme Lead in Novel Therapies at the UCL Great Ormond Street Institute of Child Health. Since 2008, in close collaboration with the team at the UCL Institute of Neurology, he has co-directed the MRC Centre for Neuromuscular Diseases at UCL.
Professor Muntoni’s main interests are in pathogenesis, deep phenotyping, gene identification for rare neuromuscular conditions and translational research in Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). He is involved in several natural history studies and clinical trials and is the UK Chief Investigator for clinical trials on DMD and SMA, including adeno associated virus trials. His research has led to the development and early clinical trials of two morpholino antisense oligonucleotides, now approved by FDA, that induce partial correction of the processing defect of the DMD gene in boys with Duchenne muscular dystrophy.
Medical Director, NIHR Manchester Children’s Clinical Research Facility
Director of the Gene Therapy Innovation and Manufacturing Centre and Director of Research and Innovation, University of Sheffield
Medical Director in the Department of Neuropediatrics, University Hospital Bonn
Jan Kirschner is Medical Director in the Department of Neuropaediatrics at the University Hospital Bonn, Germany, with a long-standing interest in the diagnosis and treatment of neuromuscular disorders in children. His main research activities include planning and conducting clinical trials that test innovative treatments for neuromuscular disorders.
Jan is a member of the Executive Committee of the European Reference Network for Neuromuscular Diseases EURO-NMD and has been joint coordinator of the German Network for Neuromuscular Disorders MD-NET since 2008. He recently established the SMArtCARE network to collect real-world data from patients with spinal muscular atrophy.
President of the European Society of Gene and Cell Therapy and Professor of Infection Biology & Gene Transfer, Hannover Medical School
Regional QA Specialist Pharmacist, North-East and North Cumbria
Anne Black is Regional QA Specialist Pharmacist at the Pharmacy Quality Control/Production Unit at Newcastle upon Tyne Hospitals. She developed her expertise and interest in advanced therapy medicinal products as she became involved with the quality management of Newcastle Advanced Therapies. She has since used this expertise to emphasise the important role of pharmacy to optimise patient safety in the delivery of these medicines.
Anne spent most of her career in NHS Quality Assurance at Newcastle upon Tyne Hospitals, before becoming Regional QA Specialist for the North East and North Cumbria in July 2017. She is currently Chair of the NHS Pan-UK Pharmacy Working Group for ATMPs and a steering group member of the Northern Alliance Advanced Therapy Treatment Centre. Anne also sits on the NHS Pharmaceutical QA Committee and the National Pharmacy Clinical Trials Advisory Group.
Pharmacist, University Hospital Southampton
Research Delivery Manager, University Hospital Southampton
Jocelyn Walters is Research Delivery Manager at the University Hospital Southampton overseeing cancer, paediatrics, genetics, haematology, reproductive health and childbirth across Wessex. She began her career as a translational researcher at University College London, and in 1992, moved to the USA to set up and run a portfolio of paediatric clinical trials with a focus on neonatal bone mineralization at the University of Tennessee, Memphis. She returned to London in 1995 to coordinate an international antenatal screening trial at the Institute of Preventative Medicine, St Bartholomew’s Hospital, London, before joining the University of Southampton in 2000 to lead the CR-UK Clinical Research Team. In 2002 she established the Central South Coast Cancer Research Network, one of the first cancer research networks in the UK and led this until 2014 when the NIHR was restructured. Since then, she has managed research at the NIHR and overseen the Southampton Cancer Research team. In 2019 she was awarded an MBE by the Queen for services to cancer research.
Senior Research Nurse at Great Ormond Street Hospital
Katie Groves is a Senior Research Nurse at the NIHR Clinical Research Facility at Great Ormand Street Hospital (GOSH), specialising in neuromuscular research. She has been a qualified nurse for 13 years and has worked in research for nine years, in which time she has set up and run a large portfolio of clinical trials from early phase to phase 3.
Katie has opened and conducted gene therapy trials that deliver treatment to children with spinal muscular atrophy (SMA) and set up gene therapy studies to deliver treatment to patients with Duchenne muscular dystrophy (DMD). She works with the multidisciplinary team at GOSH, as well as other organisations including pharmaceutical companies, advocacy groups and charities. She is currently completing her Advance Clinical Practice (ACP) training and is managing a portfolio of over 15 open trials with 30 in set up.
Consultant Nurse and Director for Infection Prevention & Control, Great Ormond Street Hospital
Assistant Professor of Radiology, Hospital of the University of Pennsylvania
Professor of Paediatric Neuromuscular Diseases, MDUK Oxford Neuromuscular Centre
Laurent Servais is Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre and Invited Professor of Child Neurology at Liège University.
After graduating from Louvain Medical School, Brussels in 1999, Laurent completed a PhD in Neuroscience from Free University of Brussels, followed by residencies in child neurology at the Free University of Brussels and Robert Debré Hospital, Paris. In 2008, he took a position in neuromuscular disease and clinical research at the Institute of Myology in Paris, where his interest and expertise in neuromuscular diseases flourished. He was subsequently appointed Head of Clinical Trials and Database Services. Most recently, Laurent served as Head of the Institute of Myology’s I-Motion (Institute of Muscle-Oriented Translational Innovation), and Head of the Neuromuscular Centre in Liège, Belgium. He joined MDUK Oxford Neuromuscular Centre and the University of Oxford in September 2019.
Laurent has been involved as principal investigator in numerous clinical trials to test treatments for Duchenne muscular dystrophy and spinal muscular atrophy (SMA). He is the leader of the Newborn Screening for SMA programme in southern Belgium where they are conducting a medico-economic analysis of newborn screening.
Support Team Manager, Spinal Muscular Atrophy UK (SMA UK)
Liz Ryburn is Support Team Manager at Spinal Muscular Atrophy UK (SMA UK), a charity and patient group that advocates for better health and social care with and for the spinal muscular atrophy community. SMA UK support many families who have a child with SMA type 1 and they have been actively engaged in advocacy for access to Zolgensma (a gene therapy medicine) with NICE and the SMC, presenting community views on access to this treatment.
Liz has an extensive professional background in social work and disability rights in both the voluntary and statutory sectors. She gained her MA in Social Policy and Social Work from the London School of Economics and has worked as a Probation Officer in Brixton, and in children’s services for South Warwickshire Health and Social Services, where she also developed supported living options for people with learning disabilities. In Christchurch, New Zealand she worked as a paediatric social worker, Executive Officer at the Champion Centre Early Intervention Centre and Support Services Manager for the Canterbury and West Coast Branch of CCS Disability Action. For the last ten years she has been Support Team Manager at SMA UK.
Director of the John Walton Muscular Dystrophy Research Centre, Newcastle University
Volker Straub is a Professor of Neuromuscular Genetics at Newcastle University. He trained as a paediatric neurologist at the University of Dussledorf and the University of Essen, Germany. Following this, he completed his PhD on Duchenne muscular dystrophy (DMD) and took up a postgraduate post in Dr Kevin Campbell’s laboratory at the University of Iowa, on limb girdle muscular dystrophies (LGMD). In 2003, he joined Newcastle University as the Deputy Director of the Institute of Genetic Medicine (until 2019), and now leads the John Walton Muscular Dystrophy Research Centre.
Professor Volker has interests in the pathogenesis of genetic muscle diseases and translational research. He was the co-founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD. He is the Chief Investigator/Principal Investigator for a number of natural history and interventional trials in DMD, LGMD, Pompe disease, spinal muscular atrophy and other NMDs. He is currently the president of the World Muscle Society and author of over 375 peer-reviewed publications.
Associate Professor of Clinical Haematology and Honorary Consultant, University of Southampton
Round table discussion
Round table discussion