Great Ormond Street Hospital is one of the world’s leading children’s hospitals with the broadest range of dedicated, children’s healthcare specialists under one roof in the UK. The hospital’s pioneering research and treatment gives hope to children from across the UK with the rarest, most complex and often life-threatening conditions. Our patients and families are central to everything we do – from the moment they come through the door and for as long as they need us.
The Dubowitz Neuromuscular Centre is a joint initiative between Great Ormond Street Hospital NHS Foundation Trust (GOSH) and UCL GOSH Institute of Child Health (ICH). Its mission is to provide excellence in the diagnosis, management, basic and translational research in paediatric neuromuscular disorders. From a clinical perspective the Centre is the largest UK paediatric tertiary Centre, dealing with essentially all paediatric neuromuscular disorders; in addition the Centre is designated by the National Specialist Commissioning Team (NSCT) as the only UK Centre for the diagnosis and management of Congenital Muscular Dystrophies and Congenital Myopathies. The Centre collaborates with the muscle pathology department also part of the NSCT centre. From a translational research perspective the Centre is involved in an increasing number of clinical trials and natural history studies (> 20); investigator driven and industry sponsored studies. The Centre’s basic research is based in laboratories at ICH, with internationally recognized and funded research projects; muscle stem cells; identification of disease genes for rare neuromuscular conditions; and genetic therapy using antisense oligonucleotides to modulate splicing
The Neuromuscular service sees babies, infants, children and teenagers with a wide variety of disorders; ranging in age of onset and severity and are usually inherited (genetic) conditions but in some cases they are acquired.
Dubowitz Neuromuscular Unit
Developmental Neuroscience Programme
UCL Great Ormond Street Institute of Child Health
Faculty of Population Health Sciences
30 Guilford Street, London WC1N 1EH
|Study Name||Trial Status at London - GOSH||Overall Trial Status|
|NS Pharma - RACER53-X||Enrolling by invitation||Enrolling by invitation|
|Sarepta - EMBARK||Fully recruited||Fully recruited|
|Genethon - Natural History of Duchenne Muscular Dystrophy||Recruiting||Recruiting|
|Pfizer - CIFFREO||Recruiting||Recruiting|
|Italfarmaco - Givinostat Extension||Fully recruited||Fully recruited|
|Catabasis - Galaxy DMD [TERMINATED]||Trial complete/terminated||Trial terminated|
|NS Pharma - RACER53||Fully recruited||Fully recruited|
|Sarepta - MIS51ON||Recruiting||Recruiting|
|Sarepta - MOMENTUM||Recruiting||Recruiting|
|Sarepta Extension Study for Casimersen or Golodirsen||Enrolling by invitation||Enrolling by invitation|
|Santhera SIDEROS Open Label Extension [TERMINATED]||Trial complete/terminated||Trial terminated|
|DYSTANCE 51 [TERMINATED]||Trial complete/terminated||Trial terminated|
|Phase 3 PolarisDMD Trial [TERMINATED]||Trial complete/terminated||Trial terminated|
|Patient Registry Translarna (Ataluren)||Fully recruited||Fully recruited|
|MCID DMD||Fully recruited||Fully recruited|
|Wave Life Sciences Exon 51||Trial complete/terminated||Trial complete|
|Vamorolone Phase 2b (VISION-DMD)||Trial complete/terminated||Trial complete|
|Santhera (SIDEROS) [TERMINATED]||Trial complete/terminated||Trial terminated|
|KINEDMD||Fully recruited||Fully recruited|
|Sarepta 53||Trial complete/terminated||Trial complete|
|Disease translation in DMD: Neuromuscular rare disease translational research in patients with DMD.||Recruiting||Recruiting|
|PTC Ataluren Phase 3||Trial complete/terminated||Trial complete|
|Ataluren long-term||Trial complete/terminated||Trial complete|
|Vamorolone Phase II Extension||Trial complete/terminated||Trial complete|
|Sarepta- ESSENCE||Fully recruited||Fully recruited|
|Roche- RO7239361 [TERMINATED]||Trial complete/terminated||Trial terminated|
|Italfarmaco- Givinostat (EPIDYS)||Trial complete/terminated||Trial complete|
|FOR-DMD||Trial complete/terminated||Trial complete|
|Outcome measures||Trial complete/terminated||Trial complete|
|RIM4DMD||Trial complete/terminated||Trial complete|
|PreU7-53||Trial complete/terminated||Trial complete|
I am a Professor of Paediatric Neurologist, trained in Italy but working in UK since 1993. I currently am the Director of the Dubowitz Neuromuscular Centre, at the UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK (https://www.ucl.ac.uk/ich/research/developmental-neurosciences/molecular-neurosciences/dubowitz-neuromuscular-centre). In the Institute I am the Head of the Developmental Neuroscience Programme and Theme Lead in the Novel Therapies of the Biomedical Research Centre in the Great Ormond Street Hospital (both since 2008). I am also Co-Director of the Medical Research Council–funded Neuromuscular Translational Research Centre at UCL.
My main interests are in pathogenesis, deep phenotyping, novel gene identification and translational research aspects especially in Duchenne muscular dystrophy and spinal muscular atrophy. I am currently involved in several natural history studies and clinical trials, one of them on exon skipping coordinated by me via an EU funded program.
Regarding gene identification, in collaboration with colleagues from UK, Europe, USA and Australia, I have been involved in the identification of more than 30 neuromuscular disease genes.
Originally from Italy, Dr Mariacristina Scoto graduated in medicine and completed with honors, specialising in Child and Adolescent Neuropsychiatry at the University of Catania. At the beginning of 2008, she joined the Dubowitz Neuromuscular Centre, at the UCL Institute of Child Health and Great Ormond Street Hospital for eight months and again in 2009 for a further four months, as part of her three years higher degree (PhD) program. She completed her higher degree focused on characterising the genotype-phenotype correlation of a large cohort of patients with Selenoprotein1-related myopathy. Prior to join again the Dubowitz team as a clinical researcher in 2010, she worked for 15 months as a Child and Adolescent Neuropsychiatrist Consultant at the Hospital “Madonna delle Grazie” of Matera (Italy). Dr Scoto works currently as a Specialty Doctor in Neuromuscular at Great Ormond Street Hospital and is Honorary Senior Research Associate at UCL Great Ormond Street Institute of Child Health. She is principal investigator (PI) and co-PI of a number of clinical trials, in both Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA), and in a national clinical and research network called SMA REACH UK.
Marta is an enthusiastic and dedicated individual with extensive and in depth experience in the coordination and management of paediatric clinical trials, from first in human/child and early phase studies to gene therapy trials.
I’m a Senior Research Coordinator at Great Ormond Street managing a portfolio of neuromuscular studies. This involves setting up, day to day management of and closing of clinical trials.
I have previously worked at GOSH as a data manager on a number of ongoing clinical trials. I have recently joined the GOSH neuromuscular research team as a coordinator and will be working on the set up and delivery of a range of studies within the portfolio.
I am a senior research nurse leading the neuromuscular portfolio at Great Ormond Street Hospital. Since joining the clinical research facility in 2019, I have worked on a variety of research studies covering a range of specialities. I am also currently completing a MSc in Translational and Experimental Therapeutics part time.
I currently work as part of a large team of professional including doctors, nurses, co-ordinators and physiotherapists to support the set up and delivery of a wide range of studies within the neuromuscular portfolio. As a research trust we are dedicated in being able to offer the opportunity of participation in research to all our patients. We have a number of exciting trials in set-up covering a variety of phases.
I qualified as a children’s nurse in 2016 and have worked in a range of settings including a general paediatric and surgical ward, a busy trauma A&E and abroad. I recently joined the clinical research facility at GOSH and now work on a number of studies within the renal and neuromuscular portfolio.
I am a physiotherapist with a specific interest in paediatric neurological and neuromuscular rehabilitation and research. Currently doing a Master's degree in UCL and working on numerous clinical trial involving children with Duchenne Muscular Dystrophy, Spinal Muscular Atrophy and Charcot-Marie-Tooth disease.
I qualified as a physiotherapist in 2015 from Cardiff University and started my career in Birmingham. Moving to Great Ormond Street in London in 2019 to pursue a career in neuromuscular paediatric physiotherapy. I have a specific interest in neuromuscular assessment and research. I am currently completing my paediatric physiotherapy master's degree at University College London. I work on many clinical trials as a clinical evaluator as well as assessing neuromuscular children who attend Great Ormond Streets specialist neuromuscular service.