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|
|Sarepta Extension Study for Casimersen or Golodirsen (Sarepta)||Enrolling by invitation||Enrolling by invitation|
|Santhera SIDEROS Open Label Extension||Enrolling by invitation||Enrolling by invitation|
|Phase 3 PolarisDMD Trial||Fully recruited||Fully recruited|
|Patient Registry Translarna (Ataluren)||Fully recruited||Fully recruited|
|Wave Life Sciences Exon 51||Trial complete/terminated||Trial complete|
|Vamorolone Phase 2b (VISION-DMD)||Fully recruited||Recruiting|
|Santhera (SIDEROS)||Fully recruited||Recruiting|
|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||Recruiting|
|TERMINATED: Roche- RO7239361||Trial complete/terminated||Trial terminated|
|Italfarmaco- Givinostat (EPIDYS)||Recruiting||Recruiting|
|FOR-DMD||Trial complete/terminated||Fully recruited|
|Outcome measures||Fully recruited||Fully recruited|
|RIM4DMD||Trial complete/terminated||Trial complete|
|PreU7-53||Trial complete/terminated||Fully recruited|
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.
I have been working within clinical trials and research since 2008 where I have gained experience in clinical trials, natural history studies and grant work.
My current employment is with the Dubowitz Neuromuscular Centre, which is part of UCL Institute of Child Health. Here, my duties include the coordination of many on-going studies as well as providing expert support for set-up and conduct of clinical research studies within the MRC Centre for Neuromuscular Diseases.
Clinical Trial Coordinator of Neuromuscular Research Studies at GOSH.
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.
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 am currently a Clinical Research Physiotherapist at the Great Ormond Street Institute of Child Health. My role is to assess the functional abilities of paediatric patients involved in clinical trials. My primary interest is in Duchenne Muscular Dystrophy.
In the past, I worked in the Italian Union for Fighting Duchenne Muscular Dystrophy for 8 years both as an adult neurological and paediatric physiotherapist.