French Register of Patients With Spinal Muscular Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Motor functional development or status
研究概览
简要总结
The primary objectives of the study are to obtain clinically meaningful data on survival and outcomes of all the patients with spinal muscular atrophy (SMA) 5q types 1 through 4 (according to international classification), being followed in the reference centers of the disease in France between September 1, 2016 and August 31, 2024. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for child and adult patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events in order to better define their places in the therapeutic strategy.
详细描述
As secondary objectives, the study aims:
- to estimate the frequencies of patients with SMA 5q types 1 through 4 who have being treated in the reference centers between September 1 2016 and August 31 2024;
- to describe overall demographic, familial, clinical, biological, and genetic characteristics of SMA 5q patients treated in all regions of France, by the type of SMA (type 1,2,3, and 4);
- to study the impact of proactive and symptomatic medical interventions (bracing, IPPB devices) and medications (vaccinations, anti-infectious, digestive, nutritional supplements) in the evolution of patients;
- to study the long-term evolution (survival, motor and respiratory functions, spinal shape, growth and nutritional function) of SMA 5q in treated and untreated populations, by new available therapies, throughout the register;
- to study mortality rate of SMA 5q in treated and untreated populations, by new available therapies, throughout the register;
- to identify and document the different therapeutic strategies by sub-populations and by discontinuation or follow-up of treatments;
- to evaluate prognostic factors of responses to therapies;
- to study the tolerance of treatments by type of treatments, by type of SMA and overall tolerance (including adverse events);
- to estimate the costs of care for SMA 5q patients in different groups (types, ages);
- to provide needful elements to evaluate the health care costs for the disease;
- to study the autonomy and the quality of life of patients depending on different therapeutic strategies;
- to study the impact of the disease on caregivers;
- to facilitate development of scientific research on SMA in the conduct of trials on new therapeutic strategies.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Days 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Genetically confirmed SMA 5q patients through 1 to 4 types treated in reference centers in France between September 1, 2016 and August 31,
- •for prospective study: inform consent form signed by patient.
- •for retrospective data: information form with non-opposition have been given to participant.
- •Covered by a health insurance.
排除标准
- •Other type of SMA (not 5q).
- •Under guardianship or curatorship.
- •Unable to understand french language.
结局指标
主要结局
Motor functional development or status
时间窗: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
* SMA Type 1 until 2 years of age: change of HINE (Hammersmith Infant Neurological Examination) score * Children: change in Vignos and Brooke scores (level of upper and Lower extremities autonomy) * Adults: change in Walton \& Boston scores (level of upper and Lower extremities autonomy)
Digestive-nutritional events
时间窗: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
Digestive events, onset of nutritional support or change in the mode and time
Motor function scores
时间窗: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
* For children ≤ 2 years: change of CHOP INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) score will be evaluated * For children between 2 and 5 years, ambulatory or not: Change of total MFM-20 (Motor Function Measure 20) score will be evaluated. Change of 3 dimension scores will be evaluated: D1 (start and transfers station), D2 (axial and proximal motricity) and D3 (distal including the upper limb) * For children children \> 6 years and adults, ambulatory or not: Change of total MFM-32 (Motor Function Measure 32) score will be evaluated. Change of 3 dimension scores will be evaluated: D1 (start and transfers station), D2 (axial and proximal motricity) and D3 (distal including the upper limb). * For ambulatory individuals: added 6MWT (6 minutes walking test)
Yearly changes of morbi-mortality-vital events
时间窗: 9 years
Events of hospitalizations, recurrent infections, fractures, complications and death.
Respiratory events
时间窗: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year
Onset of respiratory support or change in the mode and time (including intubations).
Yearly changes of spinal events
时间窗: 9 years
Onset of spinal deformity, or increment of 5° or more in the Cobb angle (examination in supine position without brace ; if sitting possible, examination in the upright position, with or without brace or with or without implant (surgery)
次要结局
- Cardiological function and anatomy(through study completion, an average of 9 year)
- Caregiver burden assessement(at baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Frequency(through study completion, an average of 9 year)
- Responses to the treatments (nusinersen and salbutamol)(1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Spinal status(1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Impact of spinal surgery techniques in scoliosis(1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Mortality(at 1, 2 and 5 years)
- Patient's quality of life: PedsQL (Pediatric Quality of Life Inventory) Child report(baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Patient's quality of life: PedsQL parent report concerning child(baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Patient's quality of life: QoL-gNMD for adult(baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Biomarkers(baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year)
- Pulmonary function(at 6 months)
- Respiratory muscles performance(at 6 months)
- Cardiological parameter(through study completion, an average of 9 year)