Ultra Rapid GEnome Sequencing

NCT06555731 | Completed

• 1 other identifier: 2024/03
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

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.

Conditions

Whole Genome Sequencing

Keywords

Next Generation Sequencing

Outcome Measures

Primary Outcomes (1)

• Time (in hours) for long read human genome sequencing and data interpretation

  Time (in hours) to complete a long-read human genome sequencing, from the extracted DNA to the molecular and clinical results

  72 hours

Secondary Outcomes (3)

• Sequencing coverage

  72 hours

• Sequencing depth

  72 hours

• Number of variants called appropriately or not

  72 hours

Study Arms (1)

Healthy Volunteers

Genetic: Ultra rapid genome sequencing

Interventions

Ultra rapid genome sequencing GENETIC

DNA extraction from blood sample and whole genome sequencing

Healthy Volunteers

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Adults with no known progressive or chronic diseases

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• CMC Ambroise Paré: lead

Study Sites (1)

Institut Rafaël

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

Location

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 13, 2024
• First Posted: August 15, 2024
• Study Start: October 8, 2024
• Primary Completion: October 12, 2024
• Study Completion: October 12, 2024
• Last Updated: December 18, 2024

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)