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.
Descripción general del estudio
Estado
Descripción detallada
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.
Tipo de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Giulia Fugazza, Clinical Project Manager
- Número de teléfono: +41 (0) 91 224 70 81
- Correo electrónico: info@4bases.ch
Ubicaciones de estudio
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Florence, Italia, 50134
- Reclutamiento
- SOD Diagnostica Genetica Azienda Osepdaliero-Universitaria Careggi
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Contacto:
- Elisabetta Pelo, Medical Doctor
- Correo electrónico: infogenetica@aou-careggi.toscana.it
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Investigador principal:
- Elisabetta Pelo
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Vicenza, Italia, 36100
- Reclutamiento
- UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
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Contacto:
- Daniela Zuccarello, Medical Doctor
- Número de teléfono: +39 0444-753360
- Correo electrónico: genetica@aulss8.veneto.it
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Investigador principal:
- Daniela Zuccarello, Medical Doctor
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
- Niño
- Adulto
- Adulto Mayor
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Método de muestreo
Población de estudio
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.
Descripción
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 de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Modelos observacionales: OTHER
- Perspectivas temporales: RETROSPECTIVE
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Periodo de tiempo |
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Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants.
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Medidas de resultado secundarias
Medida de resultado |
Periodo de tiempo |
|---|---|
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Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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.
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: through study completion, an average of 1 year
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through study completion, an average of 1 year
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Colaboradores e Investigadores
Patrocinador
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- KaryoSolver-ONT
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
Descripción del plan 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.
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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