Epidemiology and Genetics of the Amyotrophic Lateral Sclerosis in the French West Indies
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 70
- 试验地点
- 4
- 主要终点
- the impact of amyotrophic lateral sclerosis in Guadeloupe and Martinique
研究概览
简要总结
The diagnosis and the follow-up of the patients reached of SLA is centralized, since a few years, at the the Caribbean Reference center of the rare neurological diseases (CERCA labélisé in 2006) in Martinique and at the Unity of coverage of the neuromuscular Diseases, SLA and the rare neurological diseases (create in 2010) in Guadeloupe. Several phenotypic characteristics seemed to us to take out again data collected during the follow-up of the patients (26 in Guadeloupe, since the creation of the unity) in particular patients' high proportion of exceptionally long evolution (more than 10 years). Besides, we diagnosed several cases (10 cases in Guadeloupe since 2000) of association SLA- Parkinsonien Syndrome.
This association, considered as exceptional could establish a particular phenotypic entity which we would like to describe. We are interested also originally geographical of the patients, with the hypothesis that he could exist in the Antilles one or several geographical isolates of the disease allowing to lead a étiologique investigation in search of a possible genetic or environmental cause.
详细描述
The amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis due to degeneration of motor neurons in the primary motor cortex, corticospinal pathway, brain stem and spinal cord. The incidence is estimated at 2/100 000 per year and prevalence at approximately 4/100000.
Various clinical forms are described. The disease is fatal is 3-5 years on average.
The majority of cases are sporadic and of unknown origin but 5-10% are familial and present for 20% of them, mutations in the SOD1 (21q22.11) gene. Other genes have recently been implicated in ALS. Environmental toxic factors have been extensively researched. Beta-methylamino-L-alanine (BMAA), a neurotoxic nonprotein amino acid produced by most cyanobacteria, has been proposed to be the causative agent of the ALS-Parkinsonism Complex on the island of Guam in the Pacific Ocean.
Epidemiology and clinical features of ALS have never been studied in Caribbean countries.
The main purpose of the study will be to evaluate the incidence of ALS in Guadeloupe and Martinique.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient or third-party responsible for receiving information on the study and who signed informed consent ;
- •Patient age over 18 years;
- •Patient living in the Antilles;
- •Patient with ALS or SLP (primary lateral sclerosis, pure central form of ALS).
排除标准
- •Patient non-affiliated to the social security scheme ;
- •in case of difficulty of monitoring patient, exclusion of the longitudinal study.
研究组 & 干预措施
ALS's patients in Guadeloupe and Martinique
We shall determine:
- Impact of ALS in Guadeloupe and Martinique
- Prevalence of the ALS in Guadeloupe and Martinique on the duration of the study
- The distribution of ALS various phenotypes in our population of patients.
- We shall collect the date of the beginning of the symptoms of the SLA, the date of diagnosis of ALS, the date of death for the same individual and the origin of the death, the weight, the size, the albumin, CRP; in order to establish the forecast of the various clinical forms, the description of the evolution of the nutritional state.
- Search for transfers of genes TARDBP, VCP, SOD1 known and involved in the disease
- Search for possible environmental factors
干预措施: Blood sample and environmental survey (Dietary Supplement)
结局指标
主要结局
the impact of amyotrophic lateral sclerosis in Guadeloupe and Martinique
时间窗: Through study completion, an average of 6 years
Number of new cases per year.
次要结局
- Clinical criteria of SLA(Through study completion, an average of 9 years)
- Study the genetic factors of the ALS(Through study completion, an average of 9 years)
- Estimate prevalence of the ALS(Through study completion, an average of 6 years)