An observational study in Spinal Muscular Atrophy and SMA, sponsored by Newcastle University. Recruiting at 1 site in United Kingdom. Per ClinicalTrials.gov, last updated 2026-08-20.
Sponsored by Newcastle University · Observational
Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults. It is an autosomal recessive disorder and is therefore caused by inheritance of a mutated gene from each parent. All forms of SMA have an estimated combined incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1/40 to 1/60.
The patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland. Entry is via self-registration over a secure internet connection (https://www.sma-registry.org.uk/). Online, patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate. Following online consent, subjects will be entered into the registry. This is an on-going database and all participants are invited to update their information on a biannual basis.
Participants are asked to provide information by completing online questionnaires. The medical questionnaire asks specific questions about their SMA diagnosis and their condition, including their motor function, requirement of assistance for feeding or breathing, scoliosis, contractures, hospitalisations, other illnesses, medications and participation in clinical trials. Additional short questionnaires collect information about patients' experience of daily life, their activities and quality of life, also known as patient-reported outcome measures or PROMs. Participants are asked to forward a copy of their genetic results to the registry.
The registry collaborates closely with the clinical networks SMA REACH UK (paediatric) and Adult SMA REACH and with TREAT-NMD Alliance.
The SMA REACH networks collect clinician-reported medical and functional assessment data from consented SMA patients who attend participating neuromuscular clinics in the UK. Links between the SMA REACH clinical databases and the UK SMA Patient Registry have been developed to enable the consented sharing of limited and specific data. Currently, linkage enables the sharing of patient-level PROMs data collected by the registry with each patient's SMA REACH clinic and with the SMA REACH coordination teams. At clinic level, the data informs patient care. At project coordination level, the data is aligned with clinical data collected by SMA REACH. It is then anonymised, analysed and reported to regulatory authorities as part of managed access agreements (MAA) for SMA therapies. Future linkage will enable patient registry participants to view elements of their own clinical data entered into the SMA REACH database by their doctor.
282 studies on the registry are indexed under Muscular Atrophy, Spinal; 73 are open to participants now.
This study's planned enrollment of 800 is above the median of 139 across 114 observational studies indexed under Muscular Atrophy, Spinal.
Browse Muscular Atrophy, Spinal studies →Newcastle University is the lead sponsor of 60 studies on the registry; 15 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Participants with SMA will volunteer to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences throughout the UK and Ireland.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their conditions.
Patient questionnaire
Patient-reported clinical and genetic confirmation of SMA, symptoms relating to muscle weakness, motor function, medication and family history. The patient registry collects the TREAT-NMD Expanded SMA Core Dataset, which includes post-marketing surveillance data items, and patient-reported outcome measures (PROMs).
Time frame: 12 months
Plan to share: No
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Newcastle University