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Initiative for Clinical Long-read Sequencing

NCT06060184 · Status: NOT_YET_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 500

Last updated 2023-09-29

No results posted yet for this study

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 Genome sequencing (SR-GS) to establish firm genetic diagnoses, the investigators will rely on a multi-center "Translate Nationale Aktionsbündnis für Menschen mit Seltenen Erkrankungen" (Translate National Action Alliance for People with Rare Diseases Germany, TNAMSE) cohort of unsolved patients with neurological, neurodevelopmental, and imprinting disorders that is expectedly enriched for complex genomic variation. Within the framework of genomDE, the investigators will then implement, for the first time, LR-GS in the diagnostic work-up of a prospective cohort of patients with a broad range of clinical indications including rare diseases and cancer predisposition.

Conditions

  • Genetic Predisposition

Interventions

GENETIC

Next-Generation Sequencing (NGS)

Sequencing of genomes (Long read NGS)

Sponsors & Collaborators

  • RWTH Aachen University

    collaborator OTHER

  • Medical University of Hannover

    collaborator OTHER

  • Charite University, Berlin, Germany

    collaborator OTHER

  • University Hospital Tuebingen

    lead OTHER

Principal Investigators

  • Tobias Haack, Dr. med. · University Hospital Tübingen

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-12-01
Primary Completion
2025-12-01
Completion
2026-12-01

Countries

  • Germany

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06060184 on ClinicalTrials.gov