Muscular Atrophy, Spinal
Conditions
Keywords
Spinal Muscular Atrophy, Real-World Evidence, Retrospective Study, Patient Registry, Disease-Modifying Therapy
Brief summary
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).
Interventions
None listed
Sponsors
Novartis Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
Inclusion criteria
* Patients ≤18 years of age on the index date. * Patients with genetically confirmed SMA. * Patients with a known examination on the index date. * Patients with a signed informed consent from their legal representative.
Exclusion criteria
None.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Patients by Demographic Category | Baseline | 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 |
| Age at Diagnosis | Baseline | — |
| Age at Symptom Onset | Baseline | — |
| Weight | Baseline | — |
| Number of Patients by Medical Examination Result | Baseline | Medical examination result (yes/no) included: * Skin without affection * Throat calm * Respiration normal * Soft abdomen without resistance * Without swelling * Contractures present |
| Blood Pressure | Baseline | Systolic and diastolic blood pressure. |
| Pulse | Baseline | Heart beats per minute. |
| Respiratory Rate | Baseline | Breathes per minute. |
| Number of Patients by Motor Function | Baseline | 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 |
| Number of Patients by Feeding and Pulmonary Function | Baseline | 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) |
| FVC | Baseline | FVC is the volume of air that can forcibly be blown out after full inspiration. |
| Number of Patients With a Physiotherapeutic Evaluation | Baseline | — |
| Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-Intend) Score | Baseline | 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. |
| Hammersmith Functional Motor Scale Expanded (HFMSE) Score | Baseline | 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. |
| Revised Upper Limb Module (RULM) Score | Baseline | 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. |
| 6 Minute Walk Distance (6MWD) | Baseline | 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. |
| Number of Patients by Clinician's Rating of Patient's Current Severity of Illness | Baseline | 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 |
| Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician | Baseline | 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 |
| Number of Patients by Total Global Impression According to Patient or Parent | Baseline | Global impression was categorized as follows: * Much improved * Minimally improved * No change * Minimally worse * Much worse * Very much worse |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change From Baseline in CHOP-Intend Score at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | 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. |
| Change From Baseline in HFMSE Score at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | 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. |
| Change From Baseline in RULM Score at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | 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. |
| Change From Baseline in 6MWD at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | 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. |
| Change From Baseline in Number of Patients by Feeding and Pulmonary Function at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | 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) |
| Change From Baseline in FVC at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | FVC is the volume of air that can forcibly be blown out after full inspiration. |
| Change From Baseline in Number of Patients by Clinician's Rating of Patient's Severity of Illness at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | 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 |
| 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 | Baseline, 6, 12, 24, and 36 months | 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 |
| Change From Baseline in Number of Patients by Total Global Impression According to Patient or Parent at Months 6, 12, 24, and 36 | Baseline, 6, 12, 24, and 36 months | Global impression was categorized as follows: * Much improved * Minimally improved * No change * Minimally worse * Much worse * Very much worse |
| Incidence of SMA | 6, 12, 24, and 36 months | — |
Countries
Czechia
Contacts
STUDY_DIRECTORNovartis Pharmaceuticals
Novartis Pharmaceuticals
Outcome results
None listed