Cognitive Decline, Movement Disorder
Conditions
Keywords
NGS, Quality of life, Diagnosis, Rare disease, Next-generation sequencing
Brief summary
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: 1. restriction of the quality of life by unclear disease 2. Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set ) 3. Impact of the diagnosis to therapy and follow-up examinations 4. Time to diagnosis
Detailed description
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: 1. Restriction of the quality of life by unclear disease 2. Cost of not purposeful preliminary diagnostics (beyond the minimal diagnostic data of the diagnosis to therapy and follow-up examinations 3. Time to diagnosis
Interventions
None listed
Sponsors
University Hospital Tuebingen
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
For patients\> 18 years 1. 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 2. 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
Exclusion criteria
For patients \> 18 years 1. Lack of consent 2. symptom onset \> 40 years of age 3. Sudden, abrupt beginning 4. As early as previous history of genetic diagnosis using next-generation sequencing (NGS), also in the form of a panel For patients \<18 years 1. injury brain disorders * On the basis of imaging * On the basis of medical history (premature baby, hypoxic-ischemic encephalopathy) 2. Inflammatory brain disorders * On the basis of imaging * On the basis of laboratory parameters (Oligoclonal fractions, cerebrospinal fluid (CSF) cell count increased) 3. 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) 4. Sudden , abrupt beginning 5. Next-generation sequencing (NGS) also in the form of a panel
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of diagnoses made by next gereration sequency (NGS) | Within the study period of 18 months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Restriction of the quality of life by unclear disease measured rated by Quality of Life Questionnaire (EQ5D), Depression Questionnaire (PHQ) | At day 1 | EQ-5D: Calculation preference value PHQ: Categorical analysis carried out by modified evaluation algorithms of the Diagnostic and Statistical Manual of Mental Disorders (DSM) -IV B |
| 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 | For patients whose diagnosis can be made by NGS |
Countries
Germany
Contacts
Primary ContactLudger Schöls, Prof. Dr.
Backup ContactJanine Magg, Dr.
Outcome results
None listed