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).
Study Type
OBSERVATIONAL
Enrollment
213
Novartis
Prague, Czechia
Number of Patients by Demographic Category
Demographics included: * Sex * SMA classification (presymptomatic, SMA I, II, III) * Screening (family, newborn, prenatal, no) * Mutation in gene (Non5q SMA, SMN1) * Number of copies of SMN2 gene
Time frame: Baseline
Age at Diagnosis
Time frame: Baseline
Age at Symptom Onset
Time frame: Baseline
Weight
Time frame: Baseline
Number of Patients by Medical Examination Result
Medical examination result (yes/no) included: * Skin without affection * Throat calm * Respiration normal * Soft abdomen without resistance * Without swelling * Contractures present
Time frame: Baseline
Blood Pressure
Systolic and diastolic blood pressure.
Time frame: Baseline
Pulse
Heart beats per minute.
Time frame: Baseline
Respiratory Rate
Breathes per minute.
Time frame: Baseline
Number of Patients by Motor Function
Motor function (yes/no) included: * Head control * Rolling to the side * Sitting without support * Hands and knees crawling * Standing alone * Walking alone * Able to climb stairs * Wheelchair use * Function of hands
Time frame: Baseline
Number of Patients by Feeding and Pulmonary Function
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Feeding and pulmonary function included: * Feeding function (normal, nasogastric tube, percutaneous gastrostomy \[PEG\]) * Ventilation (invasive, non-invasive, full-time, part-time) * Assistance in airway clearance and secretion mobilization (yes/no) * Forced Vital Capacity (FVC) done (yes/no)
Time frame: Baseline
FVC
FVC is the volume of air that can forcibly be blown out after full inspiration.
Time frame: Baseline
Number of Patients With a Physiotherapeutic Evaluation
Time frame: 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.
Time frame: 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.
Time frame: 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: * 0 - unable to perform the task * 1 - able to perform the task with some modification * 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.
Time frame: 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.
Time frame: 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: * 1 - Not at all affected * 2 - Borderline affected * 3 - Mildly affected * 4 - Moderately affected * 5 - Markedly affected * 6 - Severely affected * 7 - Among the most extremely affected individuals
Time frame: 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: * 2 - Much improved * 3 - Minimally improved * 4 - No change * 5 - Minimally worse * 6 - Much worse * 7 - Very much worse
Time frame: Baseline
Number of Patients by Total Global Impression According to Patient or Parent
Global impression was categorized as follows: * Much improved * Minimally improved * No change * Minimally worse * Much worse * Very much worse
Time frame: Baseline
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.
Time frame: Baseline, 6, 12, 24, and 36 months
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.
Time frame: 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: * 0 - unable to perform the task * 1 - able to perform the task with some modification * 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.
Time frame: 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.
Time frame: 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: * Feeding function (normal, nasogastric tube, PEG) * Ventilation (invasive, non-invasive, full-time, part-time) * Assistance in airway clearance and secretion mobilization (yes/no) * FVC done (yes/no)
Time frame: 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.
Time frame: 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: * 1 - Not at all affected * 2 - Borderline affected * 3 - Mildly affected * 4 - Moderately affected * 5 - Markedly affected * 6 - Severely affected * 7 - Among the most extremely affected individuals
Time frame: 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: * 2 - Much improved * 3 - Minimally improved * 4 - No change * 5 - Minimally worse * 6 - Much worse * 7 - Very much worse
Time frame: 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: * Much improved * Minimally improved * No change * Minimally worse * Much worse * Very much worse
Time frame: Baseline, 6, 12, 24, and 36 months
Incidence of SMA
Time frame: 6, 12, 24, and 36 months