UK SMA Patient Registry
Research type
Research Database
IRAS ID
271303
Contact name
Chiara Marini-Bettolo
Contact email
Research summary
United Kingdom Spinal Muscular Atrophy Patient Registry
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
19/NE/0354
Date of REC Opinion
4 Mar 2020
REC opinion
Further Information Favourable Opinion
Data collection arrangements
The UK SMA Patient Registry collects clinical and genetic information from individuals with spinal muscular atrophy (SMA), a progressive neuromuscular disorder. Launched in 2008, the registry holds patient-entered data on over 500 SMA patients living within the UK and Ireland. Registration is patient-initiated through a secure online portal. Participants give their informed consent and are invited to complete a questionnaire about their condition, including: genetic confirmation; clinical diagnosis; SMA classification; current and best motor function; wheelchair use; scoliosis surgery; gastric/nasal feeding; ventilation status and family history. Data is securely stored in the UK and is accessed only by the Chief Investigator of the UK SMA Patient Registry and specific, identified members of the registries team at the John Walton Muscular Dystrophy Research Centre at Newcastle University. Registry governance is overseen by a steering committee composed of clinicians, patients and patient organisation representatives. Data collected may be used to inform research and aid in the planning and recruitment of clinical trials. However, identifiable patient data will never be released and only aggregate, anonymous data is available upon approval from the registry steering committee.
Research programme
The UK SMA Patient Registry is a national registry (database) for individuals with the condition spinal muscular atrophy (SMA), a neuromuscular disorder most commonly caused by mutation in the SMN1 gene. The registry collects important information about the patients’ condition and their gene mutation. The purpose of the registry is to aid the rapid identification of eligible patients for clinical studies and to provide a vital source of information to academics, industry and healthcare professionals. The registry helps further our understanding of the natural history and prevalence of SMA and collects post-marketing data, increasingly important following recent advancements in SMA therapies. In addition, the registry is used to disseminate SMA-relevant information to participants and support the SMA community. Registration is patient-initiated and achieved online through the registry website. The registry project is presented to patients and their consent sort before they are able to enter their data. All information is password-protected and stored securely. Anonymised registry data is only released to researchers upon Steering Committee approval. Patients affected by SMA are rare. Without a patient registry to gather details from patients, the identification of patients in sufficient numbers for a meaningful trial is challenging, delaying the testing of potential therapies.
Research database title
United Kingdom Spinal Muscular Atrophy Patient Registry
Establishment organisation
Newcastle University
Establishment organisation address
John Walton Muscular Dystrophy Research Centre
International Centre for Life
Newcastle upon Tyne
NE1 3BZ