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The aim of this study was to evaluate real-world treatment patterns and clinical outcomes in pediatric SMA patients in the Czech and Slovak Republics, using data from the Registry of muscular Dystrophy (REaDY).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Czech Cohort A | Pediatric SMA patients from Czech sites who received at least one disease modifying therapy (DMT). Patients were further categorized into treatment groups and by SMA type and birth date. | ||
| Czech Cohort B | Pediatric SMA patients from Czech sites who did not receive a DMT. | ||
| Slovak Cohort A | Pediatric SMA patients from Slovak sites who received at least one DMT. Patients were further categorized into treatment groups and by SMA type and birth date. | ||
| Slovak Cohort B | Pediatric SMA patients from Slovak sites who did not receive a DMT. |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of Patients by Demographic Category | Demographics included:
| Baseline |
| Age at Diagnosis | Baseline | |
| Age at Symptom Onset | Baseline | |
| Weight | Baseline | |
| Number of Patients by Medical Examination Result | Medical examination result (yes/no) included:
| Baseline |
| Blood Pressure | Systolic and diastolic blood pressure. | Baseline |
| Pulse | Heart beats per minute. | Baseline |
| Respiratory Rate | Breathes per minute. | Baseline |
| Number of Patients by Motor Function | Motor function (yes/no) included:
|
| Measure | Description | Time Frame |
|---|---|---|
| Change From Baseline in CHOP-Intend Score at Months 6, 12, 24, and 36 | CHOP-Intend is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function. | Baseline, 6, 12, 24, and 36 months |
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Inclusion criteria:
Exclusion criteria:
None.
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Pediatric patients enrolled in the REaDY registry by 13 March 2025.
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| Name | Affiliation | Role |
|---|---|---|
| Novartis Pharmaceuticals | Novartis Pharmaceuticals | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Novartis | Prague | 140 00 | Czechia |
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| Label | URL |
|---|---|
| Link to study results | View source |
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| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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| Baseline |
| Number of Patients by Feeding and Pulmonary Function | Feeding and pulmonary function included:
| Baseline |
| FVC | FVC is the volume of air that can forcibly be blown out after full inspiration. | Baseline |
| Number of Patients With a Physiotherapeutic Evaluation | Baseline |
| Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-Intend) Score | CHOP-Intend is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function. | Baseline |
| Hammersmith Functional Motor Scale Expanded (HFMSE) Score | The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability. | Baseline |
| Revised Upper Limb Module (RULM) Score | RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows:
| Baseline |
| 6 Minute Walk Distance (6MWD) | The 6MWD test measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes. | Baseline |
| Number of Patients by Clinician's Rating of Patient's Current Severity of Illness | Based on the clinician's total clinical experience with people with SMA, severity of illness was rated by the clinician as follows:
| Baseline |
| Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician | Change in condition was categorized as follows:
| Baseline |
| Number of Patients by Total Global Impression According to Patient or Parent | Global impression was categorized as follows:
| Baseline |
| Change From Baseline in HFMSE Score at Months 6, 12, 24, and 36 | The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability. | Baseline, 6, 12, 24, and 36 months |
| Change From Baseline in RULM Score at Months 6, 12, 24, and 36 | RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows:
| Baseline, 6, 12, 24, and 36 months |
| Change From Baseline in 6MWD at Months 6, 12, 24, and 36 | The 6MWD test measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes. | Baseline, 6, 12, 24, and 36 months |
| Change From Baseline in Number of Patients by Feeding and Pulmonary Function at Months 6, 12, 24, and 36 | Feeding and pulmonary function included:
| Baseline, 6, 12, 24, and 36 months |
| Change From Baseline in FVC at Months 6, 12, 24, and 36 | FVC is the volume of air that can forcibly be blown out after full inspiration. | Baseline, 6, 12, 24, and 36 months |
| Change From Baseline in Number of Patients by Clinician's Rating of Patient's Severity of Illness at Months 6, 12, 24, and 36 | Based on the clinician's total clinical experience with people with SMA, severity of illness was rated by the clinician as follows:
| Baseline, 6, 12, 24, and 36 months |
| Change From Baseline in Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician at Months 6, 12, 24, and 36 | Change in condition was categorized as follows:
| Baseline, 6, 12, 24, and 36 months |
| Change From Baseline in Number of Patients by Total Global Impression According to Patient or Parent at Months 6, 12, 24, and 36 | Global impression was categorized as follows:
| Baseline, 6, 12, 24, and 36 months |
| Incidence of SMA | 6, 12, 24, and 36 months |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |