The goal of this observational study is to set up a longitudinal data collection study to perform a long-term follow-up of SMA patients in a real-world setting, and to standardise and homogenize the data collection process for SMA patient's data.
Treated and untreated patients will be followed based on the routine clinical practice schedule.
Genetically confirmed 5q SMA
Patient or caregivers written informed consent has been obtained (except for paediatric patients deceased).
Further types of SMA (non-5q SMA).
Patient without legal capacity who cannot understand the nature, significance, and consequences of the project.
The study will collect data from SMA patients in Spain, independently of their treatment regimen, age, or disease status, from April 2020 onwards.
Cohort
Prospective
Not listed
Motor and functional status (WHO)
Motor status will be captured (all patients): WHO motor milestones: checklist that assesses whether a child can sit independently, crawl, stand with/without support, and walk with/without support. Changes in this score (loss or gain in function) and maintenance of score throughout study duration is assessed.
Motor and functional status (CHOP INTEND)
Motor status will be captured (patients below two years of age): Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): maximum score of 64.
Motor and functional status (HFMSE)
Motor status will be captured (patients over 36 months of age): Hammersmith Functional Motor Scale Expanded (HFMSE): maximum score of 66.
Motor and functional status (RULM)
Motor status will be captured (patients obver 36 months of age): Revised Upper Limb Module (RULM): maximum score of 37.
Clinical SMA characteristics: mechanical ventilation
Change in mechanical ventilation prevalence: percent of participants who required ventilatory support (invasive or non-invasive)
Clinical SMA characteristics: external nutrition
Change in external nutrition prevalence: percent of participants who required external nutrition support
Clinical SMA characteristics: scoliosis
Change in scoliosis presence or scoliosis surgery prevalence: percent of participants who presented scoliosis and percent of participants with spinal surgery.
Clinical SMA characteristics: neurodevelopmental developoment
Prevalence of neurodevelopmental disorders: percentage of patients who, after assessment by a neuropaediatrician, present with language, behavior, social or understanding alterations
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