Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Prospective Observational Natural History and Therapy Study
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 34
- 试验地点
- 1
- 主要终点
- final index compared to the initial index of non-paroxysmal disability
研究概览
简要总结
Alternating Hemiplegia of Childhood (AHC) is a rare and serious disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, severe often life threatening epileptic seizures, and frequently severe developmental and psychiatric/psychological disabilities. Based on the repeated input from family organizations and from professionals, as expressed at the London 2016 ATP1A3 in Disease meeting, there are urgent clinical research needs for AHC that are essential to better understand the disease, evaluate its treatment options and plan for future controlled clinical trials.
The goal of the study is to evaluate different parameters involved in the evolution of the AHC. The investigating team's hypothesis is that the evolution is variable so it aims to evaluate the factors which could contribute to the progression of the disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 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 who fit the Aicardi Alternating Hemiplegia of Childhood clinical criteria of any age. The Aicardi Criteria are six :
- •Paroxysmal hemiplegia episodes.
- •Bilateral hemiplegia or quadriplegia episodes.
- •Other paroxysmal manifestations, such as abnormal eye movements, nystagmus, strabismus, ataxia, dystonia, choreoathetosis, tonic spells, or autonomic disturbances.
- •Evidence of permanent neurological dysfunction, which can manifest as cognitive impairment, developmental delay, and/or persistent motor deficits such as spastic diplegia/quadriplegia, hypotonia, ataxia, choreoathetosis, or dystonia.
- •Sleep relieves symptoms, although attacks may resume soon after awakening.
- •First signs of dysfunction occur prior to the age of 18 months.
排除标准
- •Patients who do not have a mutation of the ATP1A3 gene and having only some of the above criteria
- •Patients and / or their parents / legal guardian having provided their opposition to the study.
- •Incapacity of patient / parent or other referent adult to participate in the prospective phase of observation of different paroxysmal events of the disease and in the scoring of the Vineland II adaptive behavior scales.
- •Diagnosis of another disease, which could explain the presence of symptoms mentioned in the criteria of Aicardi.
结局指标
主要结局
final index compared to the initial index of non-paroxysmal disability
时间窗: 1 year: Inclusion Visit up to 1 year visit
The aim is to study the modification of the final index compared to the initial index of non-paroxysmal disability in order to evaluate the parameters that influence its evolution. The non-paroxysmal disability index is calculated from different variables : ability to walk independently, presence of a behavioral disorder, presence and degree of communication disorders, abnormality of global motor skills, abnormality of fine motor skills, movements disorders, intellectual deficiency. The study also aims to evaluate the sleep architecture in AHC
次要结局
未报告次要终点