UK SMA Patient Registry
UK SMA Patient Registry
Page last updated: 20th December 2022
SMA UK was pleased to fund this important ‘patient-facing’ database over many years until, in 2020 the pharmaceutical industry took over this supporting role. Coordinated from the John Walton Muscular Dystrophy Research Centre at Newcastle University. SMA UK joins clinicians, Muscular Dystrophy UK and TreatSMA as part of the patient registry steering committee.
The Registry is vitally important for the SMA Community. It collects medical and quality of life information directly from individuals who have SMA. This includes Patient Reported Outcome Measures (PROMS) information.
This information is essential for clinicians and researchers so that they can learn more about SMA and the impact of treatments and other interventions. It will also be part of the evidence that will be considered by the National Institute for Health and Care Excellence (NICE) when it decides whether to recommend that NHS England continues to fund the drug treatments nusinersen and risdiplam. This is scheduled for 2024.
To register, you or your child should be a resident of the UK and Ireland have a genetic test result that confirms a diagnosis of SMA, or have a genetic test arranged in the near future.
Make your voice heard and find out more….
Last updated: March 2022
My name is Lindsay Murphy and I have been the Curator of the UK SMA Patient Registry since 2018.
I work in the John Walton Muscular Dystrophy Research Centre at Newcastle University. The UK SMA Patient Registry is a Newcastle University research project. It works closely with the clinical research studies Adult SMA REACH and SMA REACH UK (children) and is an active member of the TREAT-NMD Global SMA Registry Network. I am also the Curator of the Global FKRP Registry.
I am responsible for the day to day running of the registry and am therefore your first point of contact for any questions or comments. It’s always good to hear feedback from registry participants so please don’t hesitate to get in touch if needed (contact details below). It’s also my job (and one of my highest priorities) to make sure all of the data in the registry is complete, accurate and up to date. In March 2022, we were really excited to begin collecting patient-reported outcome measures (PROMs). These short questionnaires collect information from patients about their experience of daily life, their activities and quality of life. With patient consent, this data is combined with clinical data from the SMA REACH studies, made anonymous and used to inform UK regulatory authorities in their review of the effectiveness of SMA therapies.
In addition to PROMs, the registry collects the TREAT-NMD SMA Expanded Core Dataset. If you haven’t updated your details for a while, or if there is any information missing from your registration, you will probably be hearing from me soon!
UK SMA Patient Registry Curator
John Walton Muscular Dystrophy Research Centre
Translational and Clinical Research Institute
International Centre for Life
Newcastle upon Tyne
T: 0191 241 8640