NCT02588638

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: University Hospital Tuebingen · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Conditions

• Movement Disorder
• Cognitive Decline

Timeline

• Start date: 2015-12-01
• Primary completion: 2022-06-01
• Completion: 2023-09-01
• First posted: 2015-10-28
• Last updated: 2020-11-13

Locations

1 site across 1 country: Germany