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

Last updated: November 11, 2020
Sponsor: University Hospital Tuebingen
Overall Status: Active - Recruiting

Phase

N/A

Condition

Dementia

Memory Loss

Dystonias

Treatment

N/A

Clinical Study ID

NCT02588638
NextGen-SE
  • All Genders

Study 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

Eligibility Criteria

Inclusion

Inclusion Criteria: For patients> 18 years

  1. Unclear movement disorder o Progressive ataxia after minimal exclusion diagnostics: magnetic resonancetomography (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-celllymphotrophic virus ((HTLV)-AK) In medullary lesions: Liquor
  2. Unclear cognitive decline o After minimal exclusion diagnosis MRT (intracranialpressure, 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) withataxia should be genetically excluded

Exclusion

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
  5. injury brain disorders
  • On the basis of imaging
  • On the basis of medical history (premature baby, hypoxic-ischemic encephalopathy)
  1. Inflammatory brain disorders
  • On the basis of imaging
  • On the basis of laboratory parameters (Oligoclonal fractions, cerebrospinal fluid (CSF) cell count increased)
  1. Light, isolated mental developmental disorder or behavioral disorder (raremonogenetic) - (less than 2 standard deviartion of normal or - < 6 year olds - lessthan 1 year in development history back)
  2. Sudden , abrupt beginning
  3. Next-generation sequencing (NGS) also in the form of a panel

Study Design

Total Participants: 100
Study Start date:
December 01, 2015
Estimated Completion Date:
September 30, 2023

Study 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

Connect with a study center

  • University Hospital

    Tubingen, Baden-Württemberg 72076
    Germany

    Active - Recruiting

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