Ultra Rapid GEnome Sequencing (URGES)

December 16, 2024 updated by: CMC Ambroise Paré

Long-read Human Genome Sequencing in 72 Hours: "Ultra Rapid GEnome Sequencing"

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

  • 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"

Study Type

Observational

Enrollment (Actual)

4

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
    • Ile-De-France
      • Levallois-Perret, Ile-De-France, France, 92300
        • Institut Rafael

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

Adults with no known progressive or chronic diseases

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Healthy Volunteers
Genetic: Ultra rapid genome sequencing
DNA extraction from blood sample and whole genome sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Time (in hours) for long read human genome sequencing and data interpretation
Time Frame: 72 hours
Time (in hours) to complete a long-read human genome sequencing, from the extracted DNA to the molecular and clinical results
72 hours

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Sequencing coverage
Time Frame: 72 hours
>30 X respective to refseq BED
72 hours
Sequencing depth
Time Frame: 72 hours
>30 X respective to refseq BED
72 hours
Number of variants called appropriately or not
Time Frame: 72 hours
72 hours

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CMC Ambroise Paré

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 8, 2024

Primary Completion (Actual)

October 12, 2024

Study Completion (Actual)

October 12, 2024

Study Registration Dates

First Submitted

August 13, 2024

First Submitted That Met QC Criteria

August 14, 2024

First Posted (Actual)

August 15, 2024

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

December 16, 2024

Last Verified

December 1, 2024

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 2024/03

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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