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.
Przegląd badań
Status
Szczegółowy opis
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.
Typ studiów
Zapisy (Szacowany)
Kontakty i lokalizacje
Kontakt w sprawie studiów
- Nazwa: Giulia Fugazza, Clinical Project Manager
- Numer telefonu: +41 (0) 91 224 70 81
- E-mail: info@4bases.ch
Lokalizacje studiów
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Florence, Włochy, 50134
- Rekrutacyjny
- SOD Diagnostica Genetica Azienda Osepdaliero-Universitaria Careggi
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Kontakt:
- Elisabetta Pelo, Medical Doctor
- E-mail: infogenetica@aou-careggi.toscana.it
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Główny śledczy:
- Elisabetta Pelo
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Vicenza, Włochy, 36100
- Rekrutacyjny
- UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
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Kontakt:
- Daniela Zuccarello, Medical Doctor
- Numer telefonu: +39 0444-753360
- E-mail: genetica@aulss8.veneto.it
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Główny śledczy:
- Daniela Zuccarello, Medical Doctor
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Kryteria uczestnictwa
Kryteria kwalifikacji
Wiek uprawniający do nauki
- Dziecko
- Dorosły
- Starszy dorosły
Akceptuje zdrowych ochotników
Płeć kwalifikująca się do nauki
Metoda próbkowania
Badana populacja
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.
Opis
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.
Plan studiów
Jak projektuje się badanie?
Szczegóły projektu
- Modele obserwacyjne: OTHER
- Perspektywy czasowe: RETROSPECTIVE
Co mierzy badanie?
Podstawowe miary wyniku
Miara wyniku |
Ramy czasowe |
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Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants.
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Miary wyników drugorzędnych
Miara wyniku |
Ramy czasowe |
|---|---|
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Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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.
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Współpracownicy i badacze
Sponsor
Daty zapisu na studia
Główne daty studiów
Rozpoczęcie studiów (Rzeczywisty)
Zakończenie podstawowe (Szacowany)
Ukończenie studiów (Szacowany)
Daty rejestracji na studia
Pierwszy przesłany
Pierwszy przesłany, który spełnia kryteria kontroli jakości
Pierwszy wysłany (Rzeczywisty)
Aktualizacje rekordów badań
Ostatnia wysłana aktualizacja (Rzeczywisty)
Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości
Ostatnia weryfikacja
Więcej informacji
Terminy związane z tym badaniem
Słowa kluczowe
Dodatkowe istotne warunki MeSH
Inne numery identyfikacyjne badania
- KaryoSolver-ONT
Plan dla danych uczestnika indywidualnego (IPD)
Planujesz udostępniać dane poszczególnych uczestników (IPD)?
Opis planu IPD
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.
Informacje o lekach i urządzeniach, dokumenty badawcze
Bada produkt leczniczy regulowany przez amerykańską FDA
Bada produkt urządzenia regulowany przez amerykańską FDA
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