Study to Compare Traditional and Emerging Methods for Structural Variant Analysis in Prenatal, Postnatal, and Hematologic Samples
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.
Studie Overzicht
Toestand
Gedetailleerde beschrijving
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.
Studietype
Inschrijving (Geschat)
Contacten en locaties
Studiecontact
- Naam: Giulia Fugazza, Clinical Project Manager
- Telefoonnummer: +41 (0) 91 224 70 81
- E-mail: info@4bases.ch
Studie Locaties
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Florence, Italië, 50134
- Werving
- SOD Diagnostica Genetica Azienda Osepdaliero-Universitaria Careggi
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Contact:
- Elisabetta Pelo, Medical Doctor
- E-mail: infogenetica@aou-careggi.toscana.it
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Hoofdonderzoeker:
- Elisabetta Pelo
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Vicenza, Italië, 36100
- Werving
- UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
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Contact:
- Daniela Zuccarello, Medical Doctor
- Telefoonnummer: +39 0444-753360
- E-mail: genetica@aulss8.veneto.it
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Hoofdonderzoeker:
- Daniela Zuccarello, Medical Doctor
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Deelname Criteria
Geschiktheidscriteria
Leeftijden die in aanmerking komen voor studie
- Kind
- Volwassen
- Oudere volwassene
Accepteert gezonde vrijwilligers
Geslachten die in aanmerking komen voor studie
Bemonsteringsmethode
Studie Bevolking
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.
Beschrijving
Inclusion Criteria:
- Prenatal, postnatal, and oncohematological samples.
- Availability of results obtained using at least one reference method.
- Valid informed consent for use in research.
- Sufficient quantity and quality of DNA for analysis.
Exclusion Criteria:
- Absence of valid informed consent.
- Incomplete documentation of reference results.
- Insufficient or degraded DNA.
Studie plan
Hoe is de studie opgezet?
Ontwerpdetails
- Observatiemodellen: OTHER
- Tijdsperspectieven: RETROSPECTIVE
Wat meet het onderzoek?
Primaire uitkomstmaten
Uitkomstmaat |
Tijdsspanne |
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Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants.
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Agreement on the presence/absence of clinically relevant chromosomal alterations between KaryoSolver and reference methods
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Agreement by category of identified alteration (aneuploidies, deletions, duplications) between KaryoSolver and reference methods
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Percentage of cases correctly classified by KaryoSolver compared to the reference comparator
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Secundaire uitkomstmaten
Uitkomstmaat |
Tijdsspanne |
|---|---|
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Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Inter-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in different sessions
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Average analytical run time per sample with KaryoSolver compared to reference methods
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Average total reporting time/turnaround time with KaryoSolver compared to reference methods.
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Reduction in technical/interpretive workload, assessed in terms of man-hours or the number of manual tasks required
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Average cost per sample analyzed with KaryoSolver compared to reference methods
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Proportion of cases potentially eligible for faster diagnosis using KaryoSolver compared to the standard workflow
Tijdsspanne: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Medewerkers en onderzoekers
Sponsor
Studie record data
Bestudeer belangrijke data
Studie start (Werkelijk)
Primaire voltooiing (Geschat)
Studie voltooiing (Geschat)
Studieregistratiedata
Eerst ingediend
Eerst ingediend dat voldeed aan de QC-criteria
Eerst geplaatst (Werkelijk)
Updates van studierecords
Laatste update geplaatst (Werkelijk)
Laatste update ingediend die voldeed aan QC-criteria
Laatst geverifieerd
Meer informatie
Termen gerelateerd aan deze studie
Trefwoorden
Aanvullende relevante MeSH-voorwaarden
Andere studie-ID-nummers
- KaryoSolver-ONT
Plan Individuele Deelnemersgegevens (IPD)
Bent u van plan om gegevens van individuele deelnemers (IPD) te delen?
Beschrijving IPD-plan
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.
Informatie over medicijnen en apparaten, studiedocumenten
Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel
Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct
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