Status:
NOT_YET_RECRUITING
Initiative for Clinical Long-read Sequencing
Lead Sponsor:
University Hospital Tuebingen
Collaborating Sponsors:
RWTH Aachen University
Medical University of Hannover
Conditions:
Genetic Predisposition
Eligibility:
All Genders
Phase:
NA
Brief Summary
The study aims to comprehensively introduce Long-read Genome sequencing (LR-GS) based genetic testing into clinical routine. In order to demonstrate the superiority of untargeted LR-GS over Short-read...
Detailed Description
The proposed study aims to develop a blueprint for the implementation of LR-GS in clinical diagnostics. Hence Standard Operating Procedures (SOPs) and guidelines for library preparation, bioinformatic...
Eligibility Criteria
Inclusion
- Unclear molecular cause of the disease (retrospective cohort)
- Indication for genome diagnostics (prospective cohort; e.g. within the initiative for genomic medicine (genomDE) based on §64e SGB V)
- Suspected genetic cause of the disease
Exclusion
- \- Missing informed consent of the patient or legal guardian
Key Trial Info
Start Date :
December 1 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 1 2026
Estimated Enrollment :
500 Patients enrolled
Trial Details
Trial ID
NCT06060184
Start Date
December 1 2023
End Date
December 1 2026
Last Update
September 29 2023
Active Locations (1)
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1
University Hospital Tübingen
Tübingen, Germany, 72076