An observational study in Recruitment, sponsored by The Children's Hospital of Zhejiang University School of Medicine. Withdrawn at 1 site in China. Open to participants aged Up to 18 Years. Per ClinicalTrials.gov, last updated 2023-02-23.
Sponsored by The Children's Hospital of Zhejiang University School of Medicine · Observational
The primary objectives of this study are to obtain clinically meaningful data on the survival, outcomes, prognosis and treatment effect of all the patients with spinal muscular atrophy (SMA) 5q types 1 to 3 (according to international classification), being followed in the Children's Hospital, Zhejiang University School of Medicine since October 2019. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for children patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional and so on), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events.
The detailed objectives of this study included but not be limited to the following aspects:
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Genetically confirmed 5qSMA patients through 1 to 3 types younger than 18 years old followed in our hospital since October 2019 with or without disease-modifying treatment.
Exclusion Criteria:
World Health Organization (WHO) motor milestone change
Treated and untreated patients with SMA Type 1-3: change of WHO motor milestone from baseline to 3 years to track the patients' motor functional development/status. World Health Organization motor milestone score ranges from 0 to 18. The higher the score is, the better the motor function is.
Time frame: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Hammersmith Infant Neurological Examination-2 (HINE-2) scale score change
Treated and untreated patients with SMA Type 1-3: change of HINE-2 scale score from baseline to 3 years to help track the patients' motor functional development/status. The HINE-2 scale score ranges from 0 to 26. The higher the score is, the better the motor function is.
Time frame: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Self-reporting/Caregivers' reporting collection
Treated and untreated patients with SMA Type 1-3: motor function change acquired from patients themselves and their caregivers. (Subjective reports were collected through interviews and no evaluation scale was used here.)
Time frame: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Motor function evalution-Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders(CHOP INTEND) scale
For children ≤ 2 years: change of CHOP INTEND scale score. The CHOP INTEND scale score ranges from 0 to 64. The higher the score is, the better the motor function is.
Time frame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Motor function evalution-Hammersmith Functional Motor Scale-Expanded(HFMSE) scale
For children older than 2 years, ambulatory or not: Change of HFMSE scale score. The scale score ranges from 0 to 66. The higher the score is, the better the motor function is.
Time frame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Motor function evalution-Revised Upper Limb Module(RULM) scale
For children children older than 6 years, ambulatory or not: Change of RULM (Revised Upper Limb Module) scale score. The scale score ranges from 0 to 37. The higher the score is, the better the motor function is.
Time frame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Motor function evalution change-6 minutes walking test(6MWT)
For ambulatory individuals: added the change of 6MWT from baseline to 3 years to test exercise endurance. (The walking distance within 6 minutes is taken as the evaluation index, and there's no specific score range.)
Time frame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Yearly changes of incidence and morbi-mortality-vital events
Events of newly diagnosis, hospitalizations, recurrent infections, fractures, complications and death.
Time frame: every year for 3 years
Change from baseline respiratory function
Onset of respiratory support or change in the mode and time (including intubations).
Time frame: baseline(before treatment), 1 year, 2 year, 3 year
Change from baseline digestive-nutritional function
Digestive events, onset of nutritional support or change in the mode and time and special intervention.
Time frame: baseline(before treatment), 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Change from baseline spinal scoliosis Cobb angle
Onset of spinal deformity, or increment of over 5° in the Cobb angle (examination in supine position or in the upright position, with or without brace, with or without implant (surgery), and the change of the bone mineral density in lumbar.
Time frame: baseline(before treatment), 1 year, 2 year, 3 year
Pulmonary function
Pulmonary Function Test （PFT）will be evaluated at least once per year for children \> 5 years, by specifying the posture of realization of the test, lying vs sitting.
Time frame: baseline(before treatment), 1 year, 2 year, 3 year
Cardiological function monitoring
Conventional echocardiography will be evaluated to monitor the patients' cardiac function.
Time frame: baseline(before treatment), 1 year, 2 year, 3 year
Body composition measurement-Lean body mass
Lean body mass will be measured in patients older than three years by DXA or Inbody device at least once a year.
Time frame: baseline(before treatment), 1 year, 2 year, 3 year
Body composition measurement-Fat mass
Fat mass will be measured in patients older than three years by DXA or Inbody device at least once a year.
Time frame: baseline(before treatment), 1 year, 2 year, 3 year
Biomarkers
Change of biomarkers: such as Neurofilaments.
Time frame: baseline(before treatment), 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
Patients and caregivers' quality of life
Questionary as the "PedsQL Child report/PedsQL parent report concerning child" will be used to evaluate patient's quality of life. The Pediatric Quality of Life Inventory Measurement Models (PedsQLTM) is used for this evalution. The minimum score is 0 and no specific maximum score of this scale. The higher the score is, the higher the quality of life is.
Time frame: baseline(before treatment), 1 year, 2 year, 3 year
This study is withdrawn, as verified in Feb 2023. You cannot join it, but the record below documents what was studied.
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The Children's Hospital of Zhejiang University School of Medicine