Spinal muscular atrophy (SMA) is a rare genetic disease that causes a loss of the ability to use muscles (for example, some people experiencing SMA are unable to sit, stand, or walk). Serious complications, such as severe curvature of the spine, difficulty breathing and swallowing, and difficulty eating may also occur. Infants with the worst form of SMA die within a few weeks of birth. Others may die within a few months or years. Some patients live into adulthood, but may have significant physical disability. The purpose of this study is to describe SMA patients in the United Kingdom– when they experience the onset of SMA, how SMA progresses, other illnesses they experience, the medicines and treatments they use, the frequency at which they visit doctors, and the healthcare costs they incur. Given its rarity, many studies of SMA have been limited to a small number of patients seen within single practices. However, patient care and patient outcomes are known to vary across practices. A study of patients across clinics is needed to improve understanding about SMA.
This is a retrospective longitudinal cohort study examining SMA patients enrolled in CPRD. Patients with at least one diagnosis of SMA between January 1, 1987 to June 1, 2016 from up-to-date practices will be extracted from CPRD Gold. We will describe the most common associated comorbidities and treatments that occur prior to being diagnosed with SMA as well as those that are most common after SMA onset. For patients that are able to be linked to the ONS Mortality Data, both the Inpatient and Outpatient Hospital Episode Statistics, and HES Accident and Emergency datasets additional outcomes will be explored. Using the HES data we will describe NHS resource utilisation, costs, and outcomes among patients with SMA. ONS Mortality data will be used to describe the survival of SMA patients. The ability to discern SMA subtypes based on diagnostic coding, healthcare encounters, and age at onset will be examined. Patients will be studied from the earliest SMA diagnosis through the available longitudinal time frame.
Megan Teynor - Chief Investigator - Biogen
Megan Teynor - Corresponding Applicant - Biogen
Andy Surinach - Collaborator - Genesis Research LLC
Frank Corvino - Collaborator - Genesis Research LLC
HES Accident and Emergency;HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data