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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Prof
Francesco
Muntoni
f.muntoni@ucl.ac.uk
Joshua
Akpan
joshua.akpan@gosh.nhs.uk
Systemic atrophies primarily affecting the central nervous system
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Our aim is to establish a Spinal Muscular Atrophy (SMA) National Platform to improve UK standards of care, manage
National and International clinical trials and facilitate translational research for this common neuromuscular disease.
To achieve this purpose we will start to systematically collect longitudinal validated outcome measures for SMA
children followed at GOSH, the largest cohort followed in UK, and pilot and update novel outcome measures. This will be done ensuring that data collected are not only clinically meaningful but also robust for subsequent use in clinical
trials. In collaboration with the MRC Neuromuscular Centre in London and Newcastle, we will link the existing
registries and the longitudinal data collection of outcome measures and develop a hub and bespoke platform model
linking the other paediatric UK centres involved in the clinical management of SMA patients. This UK SMA Platform
(SMA REACH UK) will be a unique infrastructure containing the largest comprehensive longitudinal series of SMA
patient data in the UKÍľ the data collected will be agreed between the relevant other UK centres stakeholders and will
take into consideration other international initiatives with historical success in SMA treatment and research. Ongoing
analysis including modern psychometric techniques will ensure that the functional data collected in the UK SMA
population meets the high statistical standards required for the data to inform natural history studies and be usable as
an outcome measure for clinical trials.
An innovative genetic therapy preclinical project taking advantage of our expertise in antisense oligonucleotide
compounds will also be pursued on a parallel research project.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Qualitative;
You can take part if:
You may not be able to take part if:
There are no exclusion criteria if there is a genetic diagnosis of SMA confirmed
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
The study is sponsored by GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST and funded by Medical Research Council (MRC); MUSCULAR DYSTROPHY GROUP OF GREAT BRITAIN AND NORTHERN IRELAND; SMA TRUST; .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 30583
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