Skip to main content
OpenTrials
Completed

NCT Number: NCT06555731

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Whole Genome Sequencing

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Institut Rafaël

Levallois-Perret, Île-de-France Region, 92300, France

About this study

  • 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"

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Ultra rapid genome sequencing

Genetic

DNA extraction from blood sample and whole genome sequencing

Primary outcomes

  1. 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

Secondary outcomes

  1. Sequencing coverage

    Time frame: 72 hours

    >30 X respective to refseq BED

  2. Sequencing depth

    Time frame: 72 hours

    >30 X respective to refseq BED

  3. Number of variants called appropriately or not

    Time frame: 72 hours

Sponsors and collaborators

Lead sponsor

CMC Ambroise Paré

Other

Registry information

Official study title

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

Acronym: URGES

Important dates

Study start
2024
Primary completion
2024
Study completion
2024
First posted
Aug 15, 2024
Registry last updated
Dec 18, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.