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.
This is a retrospective, prospective, multicentre, non-randomized data collection study in Spain. The dataset collected is based on the TREAT-NMD SMA Core Dataset and the CuidAME steering committee consensus. The study collects pseudo-anonymized data, including data on genetic test results, clinical diagnoses, treatment, and outcome measures. Patients will be followed based on the routine clinical practice schedule. Motor outcomes will be captured regularly, following the SMA standards of for care, for patients with a DMT every 6 months or at least once per year in patients without DMTs, for at least a 5-year follow-up period initially, which could be extended under agreement with funders of the study. Participation in this study does not modify or influence any clinical decisions regarding the treatment the patient may receive, clinical assessments performed or frequency of visits. The study will not collect data from patients participating in a clinical trial from the time they are enrolled. Data collected before the enrolment may be used, and data collection may continue after the end of the clinical trial. Data generated during a clinical trial could be used if written permission from the clinical trial sponsor is obtained.
Study Type
OBSERVATIONAL
Enrollment
1,000
Hospital Sant Joan de Déu
Esplugues de Llobregat, Spain
RECRUITINGMotor 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.
Time frame: Yearly through study completion, an average of 5 years
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.
Time frame: Yearly through study completion, an average of 5 years
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.
Time frame: Yearly through study completion, an average of 5 years
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.
Time frame: Yearly through study completion, an average of 5 years
Motor and functional status (6MWT)
Motor status will be captured (ambulant patients): 6-Minute-Walk Test (6MWT): walked distance within 6 min.
Time frame: Yearly through study completion, an average of 5 years
Clinical SMA characteristics: mechanical ventilation
Change in mechanical ventilation prevalence: percent of participants who required ventilatory support (invasive or non-invasive)
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Time frame: Through study completion, an average of 5 years
Clinical SMA characteristics: external nutrition
Change in external nutrition prevalence: percent of participants who required external nutrition support
Time frame: Yearly through study completion, an average of 5 years
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.
Time frame: Yearly through study completion, an average of 5 years
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
Time frame: Yearly through study completion, an average of 5 years
Clinical SMA characteristics: treatment sequence
change in treatments: distribution of patients in the different possible treatment sequences
Time frame: Yearly through study completion, an average of 5 years