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NCT03954652

Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"

Completed NA Last updated 18 October 2022
What this trial tests

NA trial testing WGS-Diagnostic in Rare Diseases in 1,350 participants. Completed in 1 October 2022.

Timeline
1 October 2019
Primary endpoint
1 October 2022
1 October 2022

Quick facts

Lead sponsorUniversity Hospital Tuebingen
PhaseNA
StatusCompleted
Study typeINTERVENTIONAL
Allocationnon randomized
Designparallel
Maskingnone
Primary purposebasic science
Enrollment1,350
Start date1 October 2019
Primary completion1 October 2022
Estimated completion1 October 2022
Sites1 location across Germany

Drugs / interventions tested

Conditions studied

Sponsor

University Hospital Tuebingen

Who can join

Eligibility, any sex, with Rare Diseases or Genetic Predisposition. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio analysis (N in total 1350).

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Genomes in clinical care.
    Riess O, Sturm M, Menden B, Liebmann A, et al · · 2024 · cited 18× · PMID 38485733 · DOI 10.1038/s41525-024-00402-2
  2. Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
    Schroeder C, Faust U, Krauße L, Liebmann A, et al · · 2023 · cited 7× · PMID 37507557 · DOI 10.1038/s41431-023-01423-8

Verify or expand the search:

Other recruiting trials for Rare Diseases

Currently open trials in the same condition.

Other University Hospital Tuebingen trials

Trials by the same sponsor.

Verify against primary sources

Data sources for this page

Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT03954652.

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