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.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Genetically confirmed 5q SMA
* Patient or caregivers written informed consent has been obtained (except for paediatric patients deceased).
Exclusion Criteria:
* Further types of SMA (non-5q SMA).
* Patient without legal capacity who cannot understand the nature, significance, and consequences of the project.
Primary outcome measure(s)
Motor and functional status (WHO) — Yearly through study completion, an average of 5 years 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) — Yearly through study completion, an average of 5 years 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) — Yearly through study completion, an average of 5 years 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) — Yearly through study completion, an average of 5 years Motor status will be captured (patients obver 36 months of age): Revised Upper Limb Module (RULM): maximum score of 37.
Motor and functional status (6MWT) — Yearly through study completion, an average of 5 years Motor status will be captured (ambulant patients): 6-Minute-Walk Test (6MWT): walked distance within 6 min.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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