The grant has been awarded to Professor Francesco Muntoni, Director of The Dubowitz Neuromuscular Centre at the UCL Institute of Child Health, which will host the work in partnership with Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH) and other UK centres.
This fund will help to prepare the field for future clinical trials and will include the creation of a nationally agreed assessment tool and database to collect longitudinal data for spinal muscular atrophy (SMA) patients in the UK.
Professor Muntoni, who is also Consultant in Paediatric Neurology at GOSH, comments: “We welcome this funding from the SMA Trust, as we can now start to create an assessment tool that can be used in both the routine clinical management of SMA patients in the UK and will also be applicable to future clinical trials. This process is crucial if we are to identify and implement therapeutic interventions without delay.”
SMA is the most common autosomal recessive disorder to cause infantile death and disability, being characterized by a variable degree of muscle wasting and weakness. On the basis of clinical severity, three forms of SMA are recognized in childhood. Type I is the most common and severe form while type II and III, after an often abrupt onset of weakness, have a relatively stable or slowly progressive course.
The disease is caused by the absence of the SMN1 gene resulting in the production of low levels of a protein (SMN) necessary for the survival of motor neurons. Progressive loss of motor neurons in the spinal cord causes muscle atrophy that, depending on its severity, can lead to respiratory insufficiency, eating and swallowing difficulties, and skeletal deformities. Regular pulmonary, nutritional, orthopedic and orthotic assessments and monitoring are necessary for the lifetime of SMA children following the diagnosis.
Joanna Mitchell, Executive Director of the SMA Trust, said: “We are delighted to be working with Professor Muntoni and his world-class team on this project. SMA research is at a critical turning point and we need to ensure the UK is ready for clinical trials as and when promising therapeutic treatments become available. This might be on our own, through SMA Europe, or as part of international clinical trials, such as the current Isis project in the US.”
Notes to Editors
The UCL Institute of Child Health, in partnership with Great Ormond Street Hospital (GOSH), is the largest centre in Europe devoted to clinical and basic research and postgraduate teaching in children’s health. Academics at the UCL Institute of Child Health work together with clinicians at GOSH to form an integrated and multi-disciplinary approach to the understanding, diagnosis, treatment and prevention of childhood disease. Many individuals hold joint appointments at both institutions. This allows the hospital and the institute to work together to translate research undertaken in laboratories into clinical trials and treatments in the hospital, bringing real benefits to the children at GOSH and to the wider paediatric community. See www.ucl.ac.uk/ich/homepage for more information.
The SMA Trust is a UK registered charity working to fund medical research into Spinal Muscular Atrophy (SMA). For more information, please visit http://www.smatrust.org/