Ultra Rapid GEnome Sequencing

Completed

• Conditions: Whole Genome Sequencing
• Interventions: Genetic: Ultra rapid genome sequencing

• Registration Number: NCT06555731
• Lead Sponsor: CMC Ambroise Paré

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"

Study Timeline

• Study First Submitted: 2024-08-13
• Study First Submitted QC: 2024-08-14
• Study First Posted: 2024-08-15
• Study Start: 2024-10-08
• Primary Completion: 2024-10-12
• Study Completion: 2024-10-12
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-16
• Last Update Posted: 2024-12-18

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 4

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Healthy Volunteers	Ultra rapid genome sequencing	-

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
Sequencing depth	72 hours	\>30 X respective to refseq BED
Sequencing coverage	72 hours	\>30 X respective to refseq BED
Number of variants called appropriately or not	72 hours

Trial Locations

Locations (1)

Institut Rafaël; 🇫🇷 Levallois-Perret, Ile-De-France, France