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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Page 1 of 1 (1 locations)

1

University Hospital Tübingen

Tübingen, Germany, 72076