Clinical Trial: Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]
Official Title: Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
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:
- restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set )
- Impact of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
Detailed Summary:
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:
- Restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics (beyond the minimal diagnostic data of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
Sponsor: University Hospital Tuebingen
Current Primary Outcome: Number of diagnoses made by next gereration sequency (NGS) [ Time Frame: Within the study period of 18 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
- Restriction of the quality of life by unclear disease measured rated by Quality of Life Questionnaire (EQ5D), Depression Questionnaire (PHQ) [ Time Frame: 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 [ Time Frame: At day 1 ]
- Time to diagnosis [ Time Frame: At day 1 ]For patients whose diagnosis can be made by NGS
Original Secondary Outcome: Same as current
Information By: University Hospital Tuebingen
Dates:
Date Received: October 15, 2015
Date Started: December 2015
Date Completion: September 2017
Last Updated: October 26, 2016
Last Verified: October 2016