NCT02588638Unknown不适用
Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
适应症
试验速览
- 阶段
- 不适用
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Number of diagnoses made by next gereration sequency (NGS)
研究概览
简要总结
In the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions :
Primary:
- Number of diagnoses made by NGS
Secondary:
- restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set )
- Impact of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
详细描述
In the study NextGen SE (single-center, prospective, open diagnostic study) are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions:
Primary:
- Number of diagnoses made by next-generation sequencing (NGS)
Secondary:
- Restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics (beyond the minimal diagnostic data of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •For patients> 18 years
- •Unclear movement disorder
- •o Progressive ataxia after minimal exclusion diagnostics: magnetic resonance tomography (MRT) (structural lesions such as cerebellar tumor, malformation) Laboratory (Vitamin B12, thyroid peroxidase (TPO) antibodies, glutamate decarboxylase (GAD) II-antibodies (AK) In medullary lesions: Liquor exclusion Friedreich ataxia (FRDA) and spinocerebellar ataxia type (SCA)1-2-3-6
- •o Progressive para-spasticity by minimal exclusion diagnostics: MRT neuro axis (structural lesions such as cervical myelopathy) Laboratory (Vitamin B12, human T-cell lymphotrophic virus ((HTLV)-AK) In medullary lesions: Liquor
- •Unclear cognitive decline o After minimal exclusion diagnosis MRT (intracranial pressure, focal brain lesions explanatory) laboratory (Thyroid-stimulating hormone (TSH), TPO-AK, antibody profile limbic encephalitis) Liquor (inflammation, meningitis) Electroencephalography (EEG) (Status) Exclusion chromosome 9 open reading frame 72 (C9orf72)
- •For patients <18 years Patients with (penetrating) suspected cerebral neurogenetic diseases
- •Unclear movement disorder (spasticity, ataxia, dyskinesia)
- •Unclear cognitive disorder with probability of monogenic origin
- •Fragile X Syndrome (Fra-X) at mentally retarded boy, Friedreich ataxia (FRDA) with ataxia should be genetically excluded
排除标准
- •For patients > 18 years
- •Lack of consent
- •symptom onset > 40 years of age
- •Sudden, abrupt beginning
- •As early as previous history of genetic diagnosis using next-generation sequencing (NGS), also in the form of a panel
- •For patients <18 years
- •injury brain disorders
- •On the basis of imaging
- •On the basis of medical history (premature baby, hypoxic-ischemic encephalopathy)
- •Inflammatory brain disorders
- •On the basis of imaging
- •On the basis of laboratory parameters (Oligoclonal fractions, cerebrospinal fluid (CSF) cell count increased)
- •Light, isolated mental developmental disorder or behavioral disorder (rare monogenetic) - (less than 2 standard deviartion of normal or - < 6 year olds - less than 1 year in development history back)
- •Sudden , abrupt beginning
- •Next-generation sequencing (NGS) also in the form of a panel
结局指标
主要结局
Number of diagnoses made by next gereration sequency (NGS)
时间窗: Within the study period of 18 months
次要结局
- Restriction of the quality of life by unclear disease measured rated by Quality of Life Questionnaire (EQ5D), Depression Questionnaire (PHQ)(At day 1)
- Cost of not purposeful preliminary diagnostics rated by questionnaire on costs (number of outpatient performances, stationary investigations, repetition 's imaging, genetic single diagnostics, high-priced diagnostic(At day 1)
- Time to diagnosis(At day 1)
研究者
Prof. Dr. Ludger Schöls
Head of the Section Clinical Neurogenetics
University Hospital Tuebingen
研究点 (1)
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