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.
Aperçu de l'étude
Statut
Description détaillée
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.
Type d'étude
Inscription (Estimé)
Contacts et emplacements
Coordonnées de l'étude
- Nom: Giulia Fugazza, Clinical Project Manager
- Numéro de téléphone: +41 (0) 91 224 70 81
- E-mail: info@4bases.ch
Lieux d'étude
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Florence, Italie, 50134
- Recrutement
- 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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Chercheur principal:
- Elisabetta Pelo
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Vicenza, Italie, 36100
- Recrutement
- UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
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Contact:
- Daniela Zuccarello, Medical Doctor
- Numéro de téléphone: +39 0444-753360
- E-mail: genetica@aulss8.veneto.it
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Chercheur principal:
- Daniela Zuccarello, Medical Doctor
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Critères de participation
Critère d'éligibilité
Âges éligibles pour étudier
- Enfant
- Adulte
- Adulte plus âgé
Accepte les volontaires sains
Sexes éligibles pour l'étude
Méthode d'échantillonnage
Population étudiée
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.
La description
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 d'étude
Comment l'étude est-elle conçue ?
Détails de conception
- Modèles d'observation: OTHER
- Perspectives temporelles: RETROSPECTIVE
Que mesure l'étude ?
Principaux critères de jugement
Mesure des résultats |
Délai |
|---|---|
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Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants.
Délai: 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
Délai: 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
Délai: 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
Délai: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Mesures de résultats secondaires
Mesure des résultats |
Délai |
|---|---|
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Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session
Délai: 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
Délai: 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
Délai: 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.
Délai: 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
Délai: 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
Délai: 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
Délai: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Collaborateurs et enquêteurs
Parrainer
Dates d'enregistrement des études
Dates principales de l'étude
Début de l'étude (Réel)
Achèvement primaire (Estimé)
Achèvement de l'étude (Estimé)
Dates d'inscription aux études
Première soumission
Première soumission répondant aux critères de contrôle qualité
Première publication (Réel)
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Réel)
Dernière mise à jour soumise répondant aux critères de contrôle qualité
Dernière vérification
Plus d'information
Termes liés à cette étude
Mots clés
Termes MeSH pertinents supplémentaires
Autres numéros d'identification d'étude
- KaryoSolver-ONT
Plan pour les données individuelles des participants (IPD)
Prévoyez-vous de partager les données individuelles des participants (DPI) ?
Description du régime 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.
Informations sur les médicaments et les dispositifs, documents d'étude
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