Ultra Rapid GEnome Sequencing | NCT06555731

Studies
Ultra Rapid GEnome Sequencing

NCT06555731

Sponsor

CMC Ambroise Paré

Status

Completed

Last Update Posted

Dec 18, 2024Actual

Enrollment

4Actual

Phase

Not provided

Conditions

Whole Genome Sequencing

Interventions

Ultra rapid genome sequencing

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2024

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 8, 2024Actual

Primary Completion Date

Oct 12, 2024Actual

Completion Date

Oct 12, 2024Actual

First Submitted Date

Aug 13, 2024

First Submission Date that Met QC Criteria

Aug 14, 2024

First Posted Date

Aug 15, 2024Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 16, 2024

Last Update Posted Date

Dec 18, 2024Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

FDAAA801 Violation

Not provided

Description Module

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"

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

4Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Healthy Volunteers			Genetic: Ultra rapid genome sequencing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Ultra rapid genome sequencing	Genetic	DNA extraction from blood sample and whole genome sequencing	Healthy Volunteers

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Measure	Description	Time Frame
Sequencing coverage	>30 X respective to refseq BED	72 hours
Sequencing depth	>30 X respective to refseq BED	72 hours

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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)

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Adults with no known progressive or chronic diseases

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Institut Rafaël		Levallois-Perret	Île-de-France Region	92300	France

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided