Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 22
- 试验地点
- 2
- 主要终点
- Blood sampling
研究概览
简要总结
Niemann-Pick disease, Type C is a rare genetic disorder characterized by a failing in intracellular cholesterol transport, inducing an accumulation of sphingolipids in the brain.
Neurological signs are at the forefront of the disease. There are also psychiatric signs of psychotic kind among 28 to 45 % of patients according to studies, and a thirty cases were published. These signs can be concomitant with neurological signs or precede them.
Is is likely that psychotic disorders are the first signs of a Niemann-Pick disease not yet non encore diagnosed for some patients. Yet, no prevalence study for this disease in a psychiatric population of patients currently exists. In response to this problem this study proposes to search patients whose disease could be of organic origin or patients whose disease is suspected, based on clinical data. The diagnosis will be confirmed certified with a genetic and/or biochemical test.
详细描述
The aim of this study is to search among a population psychotic adult patients, the ones that present a Type C Niemann-Pick disease in order to to estimate the prevalence.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 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
- •Hallucinations visual
- •Confusion
- •Catatonia
- •Significant fluctuation of symptoms
- •Unusual or paradoxical reaction to the treatment
- •Progressive cognitive deterioration
排除标准
- •Patients under 18 years
- •Patients unable to give their free consent and without a legal representative
- •Breastfeeding or pregnant women
结局指标
主要结局
Blood sampling
时间窗: 2 to 4 half days
For patients with no longer suspicion of Type C Niemann-Pick Disease, according to blood/plasma oxysterols level, for genotyping with the search of NPC 1 or NPC 2 mutation.
次要结局
未报告次要终点