Real-World Evidence of Clinical Use of Available Treatments for Pediatric Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Analysis Based on REaDY Registry
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 213
- 试验地点
- 1
- 主要终点
- Number of Patients by Demographic Category
研究概览
简要总结
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).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- 未提供
研究组 & 干预措施
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.
结局指标
主要结局
Number of Patients by Demographic Category
时间窗: 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
时间窗: Baseline
Age at Symptom Onset
时间窗: Baseline
Weight
时间窗: Baseline
Number of Patients by Medical Examination Result
时间窗: Baseline
Medical examination result (yes/no) included: * Skin without affection * Throat calm * Respiration normal * Soft abdomen without resistance * Without swelling * Contractures present
Blood Pressure
时间窗: Baseline
Systolic and diastolic blood pressure.
Pulse
时间窗: Baseline
Heart beats per minute.
Respiratory Rate
时间窗: Baseline
Breathes per minute.
Number of Patients by Motor Function
时间窗: 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
时间窗: 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
时间窗: Baseline
FVC is the volume of air that can forcibly be blown out after full inspiration.
Number of Patients With a Physiotherapeutic Evaluation
时间窗: Baseline
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-Intend) Score
时间窗: 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
时间窗: 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
时间窗: 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)
时间窗: 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
时间窗: 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
时间窗: 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
时间窗: Baseline
Global impression was categorized as follows: * Much improved * Minimally improved * No change * Minimally worse * Much worse * Very much worse
次要结局
- Change From Baseline in CHOP-Intend Score at Months 6, 12, 24, and 36(Baseline, 6, 12, 24, and 36 months)
- Change From Baseline in HFMSE Score at Months 6, 12, 24, and 36(Baseline, 6, 12, 24, and 36 months)
- Change From Baseline in RULM Score at Months 6, 12, 24, and 36(Baseline, 6, 12, 24, and 36 months)
- Change From Baseline in 6MWD at Months 6, 12, 24, and 36(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(Baseline, 6, 12, 24, and 36 months)
- Change From Baseline in FVC at Months 6, 12, 24, and 36(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(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(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(Baseline, 6, 12, 24, and 36 months)
- Incidence of SMA(6, 12, 24, and 36 months)