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)
Loading locations...
相似试验
Unknown
不适用
Clinical Value of Next Generation Sequencing in Chinese Childhood Solid TumorsPediatric, Solid Tumors, NGSNCT05076071Yizhuo Zhang200
已完成
早期 1 期
Pediatric Reporting of Adult-Onset Genomic ResultsLynch SyndromeFamilial HypercholesterolemiaHereditary Breast and Ovarian Cancer SyndromeNCT03832985Geisinger Clinic162
Unknown
不适用
Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening.Hereditary Colorectal CancerNCT04280666Fudan University100
招募中
4 期
NextGen - Clinical Implication of Next Generation SequencingUrinary Tract InfectionsNCT05206500Wake Forest University Health Sciences100
已完成
不适用
Genomic Sequencing in Acutely Ill NeonatesDiseases/DiagnosesGenetic DiseaseNCT02225522Children's Mercy Hospital Kansas City65