Ultra Rapid GEnome Sequencing

NCT ID: NCT06555731

Last Updated: 2024-12-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

4 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-10-08

Study Completion Date

2024-10-12

Brief Summary

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Next-generation sequencing (NGS) has revolutionized the field of genomics, allowing the detection of genetic abnormalities for diagnostic or therapeutic purposes. Turnaround times for exome or genome sequencing results have decreased to an average of 3 to 6 months.

An increasing number of diagnostic and therapeutic fields are benefiting from the advancements in ultra-rapid sequencing. In some situations, a shorter turnaround time may be useful for making therapeutic and/or interventional management decisions.

This study aims to explore the feasibility of very rapid whole-genome sequencing, ultra-rapid genome sequencing (URGES) in 72 hours, that could benefit patients with cancer or rare diseases.

Detailed Description

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* Blood sample (5 ml)
* Extraction of genomic DNA from lymphocytes
* Ultra-rapid genome sequencing (48 hours for a whole genome), using the PromethION P2 Solo sequencer (Oxford Nanopore Technologies)
* Bioinformatics analysis of raw high-throughput sequencing data with SeqOne platform
* Medical interpretation of molecular data: NGS data must be interpreted by a multidisciplinary decision-support team to determine mutation actionability and identify potential "drivers"

Conditions

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Whole Genome Sequencing

Keywords

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Next Generation Sequencing

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Healthy Volunteers

Ultra rapid genome sequencing

Intervention Type GENETIC

DNA extraction from blood sample and whole genome sequencing

Interventions

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Ultra rapid genome sequencing

DNA extraction from blood sample and whole genome sequencing

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* No known progressive or chronic diseases
* Consent for participation
* Affiliation to a social security system

Exclusion Criteria

* Unable to understand
* Pregnant or breastfeeding women
* Subject under protection of the adults (guardianship, curators or safeguard of justice)
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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CMC Ambroise Paré

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Institut Rafaël

Levallois-Perret, Île-de-France Region, France

Site Status

Countries

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France

Other Identifiers

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2024/03

Identifier Type: -

Identifier Source: org_study_id