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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT02588638
Other study ID # NextGen-SE
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date December 2015
Est. completion date September 2023

Study information

Verified date November 2020
Source University Hospital Tuebingen
Contact Ludger Schöls, Prof. Dr.
Phone +49 7071 29-80445
Email ludger.schoels@uni-tuebingen.de
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial 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


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


Recruitment information / eligibility

Status Recruiting
Enrollment 100
Est. completion date September 2023
Est. primary completion date June 2022
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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

Study Design


Locations

Country Name City State
Germany University Hospital Tubingen Baden-Württemberg

Sponsors (1)

Lead Sponsor Collaborator
University Hospital Tuebingen

Country where clinical trial is conducted

Germany, 

Outcome

Type Measure Description Time frame Safety issue
Primary Number of diagnoses made by next gereration sequency (NGS) Within the study period of 18 months
Secondary Restriction of the quality of life by unclear disease measured rated by Quality of Life Questionnaire (EQ5D), Depression Questionnaire (PHQ) 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 At day 1
Secondary 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
Secondary Time to diagnosis For patients whose diagnosis can be made by NGS At day 1
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