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

NCT03954652 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 1350

Last updated 2022-10-18

No results posted yet for this study

Summary

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).

Conditions

Interventions

GENETIC

WGS-Diagnostic

Blood sampling, shot clinical characterization, WGS-based trio sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures), RNA-seq.

Sponsors & Collaborators

  • University Hospital Tuebingen

    lead OTHER

Principal Investigators

  • Olaf Riess, Prof. Dr. · University Hospital Tübingen

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-10-01
Primary Completion
2022-10-01
Completion
2022-10-01

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

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 NCT03954652 on ClinicalTrials.gov