Ovarian CancerCOSMOSNCT07160010
Clinical Validation of Sophia Genetics Assay
An observational study of Ovarian Cancer and Breast Cancer, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
Trial summary
Next-generation sequencing (NGS) technologies have revolutionized the field of genomics, enabling rapid and cost-effective analysis of DNA and RNA . Among NGS methods, Illumina sequencing is the most widely used, due to its high-throughput and parallel sequencing capabilities. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Ovarian Cancer, Breast Cancer, Lynch Syndrome
- What is being tested?
- Sophia Herditary Cancer Solution
- How many people
- 248 participants
- Where
- No sites listed yet
- Study dates
- 15 Sep 2025to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
- No healthy volunteers
- Adult, Older adult
Study population: The study will involve samples from patients with hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and intestinal polyposis, who will undergo genetic testing using commercial solutions from Sophia Genetics, sequenced on Illumina platforms. It will also include samples from patients with rare and hereditary disorders, profiled using Sophia Genetics' commercial solutions and sequenced on Illumina platforms. Additionally, samples from patients with available genetic test reports will be included, as well as samples from patients who have previously consented and are aware of their genomic results.
Who may be able to join
- Samples from patients with hereditary breast and ovarian cancer (HBOC), Lynch syndromes, and intestinal polyposis that will undergo genetic testing with commercial solutions provided by Sophia Genetics and sequenced on Illumina;
- Samples from patients with rare and hereditary disorders that have been profiled with commercial solutions provided by Sophia Genetics and sequenced on Illumina;
- Samples of patients for whom a report of the results is available;
- Samples of patients who have previously consented and are aware if their genomic results.
Who cannot join
- patients for whom blood, DNA or tissue samples are not available for analysis;
- samples that do not pass the quality check, set as DNA concentration, DNA integrity, library concentration and quality;
- samples for which consent for future analysis has not be given.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Clinical Validation of Sophia Genetics Assays on MGI Sequencing Platform
Next-generation sequencing (NGS) technologies have revolutionized the field of genomics, enabling rapid and cost-effective analysis of DNA and RNA . Among NGS methods, Illumina sequencing is the most widely used, due to its high-throughput and parallel sequencing capabilities. Nanopore sequencing, passes DNA through a nanopore, and the sequence is identified based on changes in electrical current. MGI's sequencing platforms use combinatorial probe-anchor synthesis technology to achieve high-throughput sequencing. These diverse NGS techniques have broad applications, including genome sequencing, metagenomics, and epigenetics, offering powerful tools for exploring genetic information.The main distinction between MGI and Illumina platforms lies in their methods for constructing and amplifying sequencing libraries. DNBSEQ™ utilizes circular single-stranded libraries with a central adapter, which are amplified by a rolling circle replication system to produce DNA nanoballs (DNBs). Each DNB then binds to a flowcell well via ionic bonds. Illumina technology employs linear double-stranded libraries with adapters at both ends, which are hybridized and amplified in clusters using bridge PCR. Both platforms use ordered flowcells and sequencing-by-synthesis methods. Thanks to its linear DNB amplification approach, where each replica is generated from the same original template, DNBSEQ™ technology eliminates detectable clonal amplification errors (specific to PCR) and index hopping, while also producing a very low rate of duplicated sequences. The MGI sequencer can accommodate two flowcells in parallel, each divided into four independent lanes. It is compatible only with MGI library preparation kits, while analysis pipelines developed for Illumina data are also compatible with MGI data.This study aims to compare the performance of MGI's DNBSEQ-G400 sequencing instrument with the gold-standard Illumina instruments (MiSeq and NextSeq 550) using the same DNA capture libraries constructed with Sophia Genetics assays. The goal is to assess whether MGI's platform is comparable to Illumina in profiling patients with solutions commercialized by Sophia Genetics.
- Conditions
- Ovarian Cancer, Breast Cancer, Lynch Syndrome, Intestinal Polyposis
- Being tested
- Sophia Herditary Cancer Solution
- Medical subject headings
- Ovarian Neoplasms, Breast Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Intestinal Polyposis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sophia Herditary Cancer SolutionDiagnostic test
Also called Sophia Exome Clinical Solutions v3
To compare the performance of MGI's DNBSEQ-G400 sequencing instrument with the gold standard Illumina instruments (MiSeq and NextSeq 550) using the same capture DNA libraries constructed with Sophia Genetics assays.
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparation between sequencing platforms
To assess whether MGI's platform is superimposable with Illumina in profiling patients with solutions commercialized by Sophia Genetics.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Sep 2025
- Study start15 Sep 2025 (estimated)
- Primary completion30 Sep 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ovarian CancerStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- 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
- 248 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Angelo Minucci, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07160010
- Sponsor's protocol ID
- 7180
- Acronym
- COSMOS
- Status last verified
- Aug 2025
- First submitted
- 29 Aug 2025
- Last updated
- 8 Sep 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Validation of Sophia Genetics Assays on MGI Sequencing Platform
- ClinicalTrials.gov ID
- NCT07160010
- Acronym / sponsor ID
- COSMOS / 7180
- Conditions
- Ovarian Cancer, Breast Cancer, Lynch Syndrome, Intestinal Polyposis
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 248 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 15 Sep 2025 (estimated)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 8 Sep 2025 (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) technologies have revolutionized the field of genomics, enabling rapid and cost-effective analysis of DNA and RNA . Among NGS methods, Illumina sequencing is the most widely used, due to its high-throughput and parallel sequencing capabilities. Nanopore sequencing, passes DNA through a nanopore, and the sequence is identified based on changes in electrical current. MGI's sequencing platforms use combinatorial probe-anchor synthesis technology to achieve high-throughput sequencing. These diverse NGS techniques have broad applications, including genome sequencing, metagenomics, and epigenetics, offering powerful tools for exploring genetic information.The main distinction between MGI and Illumina platforms lies in their methods for constructing and amplifying sequencing libraries. DNBSEQ™ utilizes circular single-stranded libraries with a central adapter, which are amplified by a rolling circle replication system to produce DNA nanoballs (DNBs). Each DNB then binds to a flowcell well via ionic bonds. Illumina technology employs linear double-stranded libraries with adapters at both ends, which are hybridized and amplified in clusters using bridge PCR. Both platforms use ordered flowcells and sequencing-by-synthesis methods. Thanks to its linear DNB amplification approach, where each replica is generated from the same original template, DNBSEQ™ technology eliminates detectable clonal amplification errors (specific to PCR) and index hopping, while also producing a very low rate of duplicated sequences. The MGI sequencer can accommodate two flowcells in parallel, each divided into four independent lanes. It is compatible only with MGI library preparation kits, while analysis pipelines developed for Illumina data are also compatible with MGI data.This study aims to compare the performance of MGI's DNBSEQ-G400 sequencing instrument with the gold-standard Illumina instruments (MiSeq and NextSeq 550) using the same DNA capture libraries constructed with Sophia Genetics assays. The goal is to assess whether MGI's platform is comparable to Illumina in profiling patients with solutions commercialized by Sophia Genetics.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study will involve samples from patients with hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and intestinal polyposis, who will undergo genetic testing using commercial solutions from Sophia Genetics, sequenced on Illumina platforms. It will also include samples from patients with rare and hereditary disorders, profiled using Sophia Genetics' commercial solutions and sequenced on Illumina platforms. Additionally, samples from patients with available genetic test reports will be included, as well as samples from patients who have previously consented and are aware of their genomic results.
Key inclusion criteria (4 listed)
- Samples from patients with hereditary breast and ovarian cancer (HBOC), Lynch syndromes, and intestinal polyposis that will undergo genetic testing with commercial solutions provided by Sophia Genetics and sequenced on Illumina;
- Samples from patients with rare and hereditary disorders that have been profiled with commercial solutions provided by Sophia Genetics and sequenced on Illumina;
- Samples of patients for whom a report of the results is available;
- Samples of patients who have previously consented and are aware if their genomic results.
Key exclusion criteria (3 listed)
- patients for whom blood, DNA or tissue samples are not available for analysis;
- samples that do not pass the quality check, set as DNA concentration, DNA integrity, library concentration and quality;
- samples for which consent for future analysis has not be given.
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 |
|---|---|---|
| Sophia Herditary Cancer SolutionAlso: Sophia Exome Clinical Solutions v3To compare the performance of MGI's DNBSEQ-G400 sequencing instrument with the gold standard Illumina instruments (MiSeq and NextSeq 550) using the same capture DNA libraries constructed with Sophia Genetics assays. | Diagnostic test | – |
Primary outcome
Comparation between sequencing platforms
Time frame: 12 months
To assess whether MGI's platform is superimposable with Illumina in profiling patients with solutions commercialized by Sophia Genetics.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Sep 2025.
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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.
Angelo Minucci principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Questions about this trial
What is this clinical trial studying?
An observational study of Ovarian Cancer and Breast Cancer, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
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 4 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: opening soon, as of the sponsor's last update on 8 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Angelo Minucci (+390630158602, angelo.minucci@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Comparation between sequencing platforms (time frame: 12 months). 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 8 Sep 2025; AzTrials last refreshed its copy on 7 Nov 2026.