Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
NCT ID: NCT02588638
Last Updated: 2020-11-13
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
100 participants
OBSERVATIONAL
2015-12-31
2023-09-30
Brief Summary
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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
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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
Conditions
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Keywords
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Study Design
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OTHER
OTHER
Study Groups
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Adult patients
Unclear movement disorder, unclear cognitive decline
No interventions assigned to this group
Patients < 18 years
Patients with (penetrating) suspected cerebral neurogenetic diseases
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
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
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
ALL
No
Sponsors
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University Hospital Tuebingen
OTHER
Responsible Party
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Prof. Dr. Ludger Schöls
Head of the Section Clinical Neurogenetics
Principal Investigators
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Ludger Schöls, Prof. Dr.
Role: PRINCIPAL_INVESTIGATOR
University Hospital Tübingen
Locations
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University Hospital
Tübingen, Baden-Wurttemberg, Germany
Countries
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Central Contacts
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Facility Contacts
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Ludger Schöls, Prof. Dr.
Role: primary
Janine Magg, Dr.
Role: backup
Other Identifiers
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NextGen-SE
Identifier Type: -
Identifier Source: org_study_id