Ultra Rapid GEnome Sequencing

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06555731

Acronym

URGES

Enrollment

Registered

2024-08-15

Start date

2024-10-08

Completion date

2024-10-12

Last updated

2024-12-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Whole Genome Sequencing

Keywords

Next Generation Sequencing

Brief summary

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

* 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

Interventions

GENETICUltra rapid genome sequencing

DNA extraction from blood sample and whole genome sequencing

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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)

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
Sequencing coverage	72 hours	\>30 X respective to refseq BED
Sequencing depth	72 hours	\>30 X respective to refseq BED
Number of variants called appropriately or not	72 hours	—

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026