Study to Compare Traditional and Emerging Methods for Structural Variant Analysis in Prenatal, Postnatal, and Hematologic Samples

November 5, 2026 updated by: 4bases Italia Srl

Multicenter Performance Study Using a Non-CE-marked in Vitro Diagnostic Medical Device (IVD) for the Standardization and Comparative Evaluation of Traditional and Emerging Methods for the Analysis of Structural Variants in Prenatal, Postnatal, and Oncohematological Samples

The study goal is to evaluate an innovative technology, KaryoSolver, which enables molecular karyotype reconstruction, in comparison with reference conventional methods, in terms of:

Presence or absence of clinically detectable structural variants; Type of alteration (aneuploidies, deletions, duplications); Copy number present. KaryoSolver is a software system for reconstructing the molecular karyotype from low-coverage genomic sequencing data using long-read technology.

The expected performance of the device under study is its ability to detect and classify the main clinically detectable structural variants within included samples in a manner consistent with the reference comparators, using a standardizable workflow, competitive turnaround times, and adequate reproducibility.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Detailed Description

In particular, the study contributes to demonstrating the following requirements:

  • scientific validity, through the correlation between Karyosolver and the aCGH/SNP array result used as a reference;
  • analytical performance, including accuracy, analytical sensitivity, analytical specificity, and reproducibility of the method, evaluated according to the criteria defined by ISO 5725;
  • clinical performance, through the evaluation of the test's ability to correctly identify copy number variations (CNVs) or regions of loss of heterozygosity (LOH/ROH) already reported in the samples selected for the study.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.
  • Name: Giulia Fugazza, Clinical Project Manager
  • Phone Number: +41 (0) 91 224 70 81
  • Email: info@4bases.ch

Study Locations

  • Italy
      • Florence, Italy, 50134
        • Recruiting
        • SOD Diagnostica Genetica Azienda Osepdaliero-Universitaria Careggi
        • Contact:
        • Principal Investigator:
          • Elisabetta Pelo
      • Vicenza, Italy, 36100
        • Recruiting
        • UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
        • Contact:
        • Principal Investigator:
          • Daniela Zuccarello, Medical Doctor

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The biological samples are residual samples already available at the two participating clinical centers. The samples originate from diagnostic workups that have already been completed and were not collected specifically for this study. In particular, residual samples related to prenatal, postnatal constitutional, and oncohematological diagnostics may be used, in accordance with the criteria set forth in the protocol.

Description

Inclusion Criteria:

  1. Prenatal, postnatal, and oncohematological samples.
  2. Availability of results obtained using at least one reference method.
  3. Valid informed consent for use in research.
  4. Sufficient quantity and quality of DNA for analysis.

Exclusion Criteria:

  1. Absence of valid informed consent.
  2. Incomplete documentation of reference results.
  3. Insufficient or degraded DNA.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: OTHER
  • Time Perspectives: RETROSPECTIVE

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants.
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Agreement on the presence/absence of clinically relevant chromosomal alterations between KaryoSolver and reference methods
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Agreement by category of identified alteration (aneuploidies, deletions, duplications) between KaryoSolver and reference methods
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Percentage of cases correctly classified by KaryoSolver compared to the reference comparator
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Inter-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in different sessions
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Average analytical run time per sample with KaryoSolver compared to reference methods
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Average total reporting time/turnaround time with KaryoSolver compared to reference methods.
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Reduction in technical/interpretive workload, assessed in terms of man-hours or the number of manual tasks required
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Average cost per sample analyzed with KaryoSolver compared to reference methods
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year
Proportion of cases potentially eligible for faster diagnosis using KaryoSolver compared to the standard workflow
Time Frame: through study completion, an average of 1 year
through study completion, an average of 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
4bases Italia Srl

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
September 22, 2026

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
June 1, 2027

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 1, 2027

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 12, 2026

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 5, 2026

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
November 12, 2026

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
November 12, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 5, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
October 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • KaryoSolver-ONT

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

IPD will not be shared because this is a non-interventional study which does not produce any health outcomes; it is, in fact, a performance study involving IVDs conducted solely for methodological research purposes, with no results being reported for diagnostic or therapeutic purposes.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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