Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland

What this Trial Is About

Spinal muscular atrophy (SMA) is a motor neuron disease caused by a mutation in the survival motor neuron 1 gene (SMN1). It affects both children and adults and is inherited when a mutated gene is passed from each parent. The disease has a combined incidence of about 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1 in 40 to 1 in 60. The patient registry aims to collect detailed information to better understand SMA in the UK and Ireland through questionnaire-based research. Participants who join the registry provide information by completing online questionnaires about their SMA diagnosis, motor function, breathing and feeding assistance, scoliosis, hospitalizations, medications, and clinical trial participation. They also complete shorter questionnaires about daily life experiences and quality of life, called patient-reported outcome measures (PROMs). Participants are asked to submit their genetic test results to the registry. The registry works closely with clinical networks to share and align data while protecting privacy. During the study, participants update their information every six months through a secure internet connection. The data collected helps inform patient care at clinics and supports regulatory reporting for SMA therapies. Researchers will review patient questionnaires at 12 months as the main outcome measure. This ongoing registry allows participants to contribute to research and may enable them to view some of their clinical data collected by their doctors. The study is led by Newcastle University and continues until at least May 2025.

UK SMA Patient Registry