A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 700
- 试验地点
- 99
- 主要终点
- Incidence of treatment emergent serious adverse events
研究概览
简要总结
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases.
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.
详细描述
This is a prospective, multi center, multinational, non-interventional observational study. All patients will be managed according to the clinical site's normal clinical practice, i.e., the diagnostic and clinical treatment/practice process that a clinician chooses according to their clinical judgement for an SMA patient. Clinical care will not be driven by the protocol. No additional visits or investigations will be performed beyond normal clinical practice. Patients will be followed for 15 years from enrolment or until death, whichever is sooner.
研究设计
- 研究类型
- Observational
- 观察模型
- Ecologic Or Community
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.
- •Appropriate consent/assent has been obtained for participation in the registry
排除标准
- •Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA.
- •Note: Patients who are participating in a Compassionate Use Program (CUP) for OAV-101 (Zolgensma) such as a Managed Access Program (MAP), an Expanded Access Program (EAP), Single Patient Investigational New Drug (IND) (SPI) or Named Patient Program (NPP) are eligible to enroll in the registry regardless of the date of a genetic or clinical diagnosis of SMA.
研究组 & 干预措施
Prospective observational registry
This is a prospective, multi center, multinational, non-interventional observational registry.
干预措施: Prospective observational registry (Other)
Prospective observational registry
This is a prospective, multi center, multinational, non-interventional observational registry.
干预措施: Zolgensma (Drug)
结局指标
主要结局
Incidence of treatment emergent serious adverse events
时间窗: Through 15 years of follow up
Change in probability of survival of all patients with SMA using Kaplan Meier method to estimate
时间窗: Based on information collected at Baseline and every 6 months through 2 years of follow-up, then annually through 15 years of follow up.
Incidence of treatment emergent adverse events
时间窗: Through 15 years of follow up
Change from baseline in Hammersmith Functional Motor Scale Expanded (HFMSE) for patients with type II and III SMA
时间窗: Baseline and every 6months through 2 years of follow up, then annually through 15 years of follow up
HFMSE score range from 0 to 66 with the higher scores indicating more development.
Incidence of treatment emergent thrombocytopenia, hepatotoxicity and cardiac adverse events
时间窗: Through 15 years of follow up
Incidence of treatment emergent adverse events related to therapy
时间窗: Through 15 years of follow up
Change from baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) in infants with pre-symptomatic or type I SMA
时间窗: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
CHOP INTEND score ranges from 0 to 64 with higher scores indicating higher motor function
Change from baseline Hammersmith Infant Neurological Examination (HINE) in infants with pre-symptomatic, type I or type II SMA
时间窗: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up
HINE score range from 0 to 26 with higher scores indicating more development.
次要结局
- Change from baseline in Zarit Burden Interview(Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up)
- Change from baseline in PedsQL Patient interview(Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up)
- Change from baseline in PedsQL Parent interview(Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up)
- Change from baseline in percent of patients requiring ventilator support (BiPAP, Endotracheal tube)(: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up)
- Change from baseline in rates of hospitalization(Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up)
- Change from baseline in in percent of patients requiring mobility device support (Ankle-Foot Orthoses, Supramalleolar Orthosis, Orthotic/shoe inserts, Knee immobilizers, Knee-Ankle-Foot Orthoses , Hand splints, Spinal bracing)(: Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up)
- Change from baseline in in percent of patients requiring nutritional support (Gastrostomy Tube, Gastrojejunal tube (GT) with Nissen fundoplication, GT without Nissen fundoplication, Nasogastrictube, Nasojejunaltube or Percutaneous endoscopic gastrostomy)(Baseline and every 6 months through 2 years of follow up, then annually through 15 years of follow up)