Initiative for Clinical Long-read Sequencing

Studien-Informationen Einschlusskriterien Studien-Rationale Studien-Arme Geprüfte Regime

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NCT-Nummer:
NCT06060184

Studienbeginn:
Dezember 2023

Letztes Update:
29.09.2023

Wirkstoff:
-

Indikation (Clinical Trials):
Genetic Predisposition to Disease

Geschlecht:
Alle

Altersgruppe:
Alle

Phase:
-

Sponsor:
University Hospital Tuebingen

Collaborator:
RWTH Aachen University, Medical University of Hannover, Charite University, Berlin, Germany,

Studienleiter

Tobias Haack, Dr. med.
Principal Investigator
University Hospital Tübingen

Kontakt

Tobias Haack, Dr.
Kontakt:
Phone: +49 7071 29
Phone (ext.): 77696
E-Mail: tobias.haack@med.uni-tuebingen.de» Kontaktdaten anzeigen

Olaf Rieß, Prof. Dr.
Kontakt:
Phone: +49 7071 29
Phone (ext.): 72288
E-Mail: olaf.riess@med.uni-tuebingen.de» Kontaktdaten anzeigen

Studienlocations
(1 von 1)

University Hospital Tübingen
72076 Tübingen
(Baden-Württemberg)
Germany» Google-Maps
Ansprechpartner:
Tobias Haack, Dr.
Phone: +49 7071 29
Phone (ext.): 77696
E-Mail: tobias.haack@med.uni-tuebingen.de

Rieß, Prof. Dr.
Phone: +49 7071 29
Phone (ext.): 72288
E-Mail: olaf.riess@med.uni-tuebingen.de» Ansprechpartner anzeigen

Studien-Informationen

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 analysis, and clinical interpretation will be compiled.

Furthermore, the investigators intend to develop an open source 'gold standard'

bioinformatics pipeline, addressing all relevant types of genomic alterations, thus providing

the bioinformatic basis for a streamlined implementation of LR-GS at other sites. In addition

to in-depth phenotype information the availability of SR-GS will be instrumental to benchmark

the ability to detect different types of genomic variation. Additional relevant issues for

genetic testing such as variant calling in difficult-to-map genomic regions, detection of

genomic methylation patterns, characterization of repeat expansion and duplicated genes, and

haplotype-phased genome de novo assembly will be addressed. Moreover, based on the strong

background in Artificial Intelligence (AI) driven variant prioritization in the consortium,

the investigators aim to implement and/or develop tools that enable an efficient

prioritization of disease-causing variants. Beyond the usage within the context of the

proposed study, generated datasets will be made available according to the Findable,

Accessible, Interoperable and Reusable (FAIR) principles for national (German Human

Genome-Phenome Archive, GHGA) and international (European Genome-Phenome Archive, EGA,

Genome-Phenome Analysis Platform, GPaP) data repositories. the investigators aim to establish

a population scale reference dataset for Structural variants (SV), which is absolutely

mandatory in the context of rare disease diagnostics.

Ein-/Ausschlusskriterien

Inclusion Criteria:

- 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 Criteria:

- Missing informed consent of the patient or legal guardian

Studien-Rationale

Primary outcome:

1. Number of patients with Rare Disease (RD) or cancer predisposition syndromes with confirmed diagnosis by LR-GS compared to previous diagnostic methods including SR-GS (Time Frame - Day 1):
A molecular diagnosis is considered confirmed when likely pathogenic or pathogenic variants are identified according to the American College of Medical Genetics and Genomics (ACMG). classification.

Studien-Arme

Experimental: Retrospective cohort
Subjects with unclear molecular cause of the disease. The subjects are clinically characterized in the context of outpatient/ inpatient standard care at the University Hospital Tübingen (UKT) or cooperating locations.
Experimental: Prospective cohort
Subjects with indication for genome diagnostics (e.g. within the initiative for genomic medicine (genomDE) based on §64e German Social Code (SGB) Fifth Book (V) (SGB V).

Geprüfte Regime

Next-Generation Sequencing (NGS):
Sequencing of genomes (Long read NGS)

Quelle: ClinicalTrials.gov

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