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:

  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 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:

  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

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