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Clinical Trials/NCT02588638
NCT02588638UnknownNot Applicable

Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

University Hospital Tuebingen1 site in 1 country100 target enrollmentStarted: December 2015Last updated:
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Conditions

Trial Snapshot

Phase
Not Applicable
Enrollment
100
Locations
1
Primary Endpoint
Number of diagnoses made by next gereration sequency (NGS)
Study OverviewStudy DesignEligibility CriteriaOutcomesInvestigatorsSitesRecords & IdentifiersSimilar Trials

Study Overview

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

Study Design

Study Type
Observational
Observational Model
Other
Time Perspective
Other

Eligibility Criteria

Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • •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

Exclusion Criteria

  • •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

Outcomes

Primary Outcomes

Number of diagnoses made by next gereration sequency (NGS)

Time Frame: Within the study period of 18 months

Secondary Outcomes

  • 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)

Investigators

Sponsor Class
Other
Responsible Party
Principal Investigator
Principal Investigator

Prof. Dr. Ludger Schöls

Head of the Section Clinical Neurogenetics

University Hospital Tuebingen

Study Sites (1)

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