Whole Genome SequencingURGESNCT06555731
Ultra Rapid GEnome Sequencing
An observational study of Whole Genome Sequencing, run by CMC Ambroise Paré at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Whole Genome Sequencing
- What is being tested?
- Ultra rapid genome sequencing
- How many people
- 4 participants
- Where
- 1 siteFrance
- Study dates
- 8 Oct 2024to 12 Oct 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Adults with no known progressive or chronic diseases
Who may be able to join
- No known progressive or chronic diseases
- Consent for participation
- Affiliation to a social security system
Who cannot join
- Unable to understand
- Pregnant or breastfeeding women
- Subject under protection of the adults (guardianship, curators or safeguard of justice)
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Long-read Human Genome Sequencing in 72 Hours: "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.
Read the 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"
- Conditions
- Whole Genome Sequencing
- Being tested
- Ultra rapid genome sequencing
- Keywords
- Next Generation Sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Ultra rapid genome sequencingGenetic
DNA extraction from blood sample and whole genome sequencing
| Study group | Role | What they receive |
|---|---|---|
| Healthy Volunteers | Not described Receives: Genetic: Ultra rapid genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 72 hours
Secondary outcomes (3)
Sequencing coverage
>30 X respective to refseq BED
Measured: 72 hours
Sequencing depth
>30 X respective to refseq BED
Measured: 72 hours
Number of variants called appropriately or not
Measured: 72 hours
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Aug 2024
- Study start8 Oct 2024
- Primary completion12 Oct 2024
- Study completion12 Oct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Whole Genome SequencingStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- CMC Ambroise Paré
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06555731
- Sponsor's protocol ID
- 2024/03
- Acronym
- URGES
- Status last verified
- Dec 2024
- First submitted
- 13 Aug 2024
- Last updated
- 18 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-read Human Genome Sequencing in 72 Hours: "Ultra Rapid GEnome Sequencing"
- ClinicalTrials.gov ID
- NCT06555731
- Acronym / sponsor ID
- URGES / 2024/03
- Conditions
- Whole Genome Sequencing
- Keywords
- Next Generation Sequencing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- CMC Ambroise ParéUniversity, hospital or other
- Study start
- 8 Oct 2024 (actual)
- Primary completion
- 12 Oct 2024 (actual)
- Study completion
- 12 Oct 2024 (actual)
- First posted
- 15 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Healthy Volunteers | – | Genetic: Ultra rapid genome sequencing |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Adults with no known progressive or chronic diseases
Key inclusion criteria (3 listed)
- No known progressive or chronic diseases
- Consent for participation
- Affiliation to a social security system
Key exclusion criteria (3 listed)
- Unable to understand
- Pregnant or breastfeeding women
- Subject under protection of the adults (guardianship, curators or safeguard of justice)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Ultra rapid genome sequencingDNA extraction from blood sample and whole genome sequencing | Genetic | Healthy Volunteers |
Primary outcome
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
3 secondary outcomes
Sequencing coverage
Time frame: 72 hours
Sequencing depth
Time frame: 72 hours
Number of variants called appropriately or not
Time frame: 72 hours
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Dec 2024.
- Individual participant dataSharing planned: No
Related trials for Whole Genome Sequencing
RecruitingObservational study
Liquid Biopsy-Based Early Screening for Endometrial Cancer in Regional Chinese Populations
Endometrial Cancer, Atypical Endometrial Hyperplasia
Enrolling by invitationObservational study
Whole Genome-Based Surveillance of Nasopharyngeal Pneumococcal Carriage in Vietnamese Children
Streptococcus Pneumoniae Carriage, Pneumococcal Colonization
Recruiting
Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS
Whole Genome Sequencing, Acute Myeloid Leukemia
RecruitingObservational study
INTERogating Cancer for Etiology, Prevention and Therapy Navigation
Cancer, Cancer Gene Mutation
Recruiting
Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS
Whole Genome Sequencing, Myelodysplastic Syndromes
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Whole Genome Sequencing, run by CMC Ambroise Paré at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Time (in hours) for long read human genome sequencing and data interpretation (time frame: 72 hours). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Dec 2024.