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.
Visão geral do estudo
Status
Descrição detalhada
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 estudo
Inscrição (Estimado)
Contactos e Locais
Contato de estudo
- Nome: Giulia Fugazza, Clinical Project Manager
- Número de telefone: +41 (0) 91 224 70 81
- E-mail: info@4bases.ch
Locais de estudo
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Florence, Itália, 50134
- Recrutamento
- SOD Diagnostica Genetica Azienda Osepdaliero-Universitaria Careggi
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Contato:
- Elisabetta Pelo, Medical Doctor
- E-mail: infogenetica@aou-careggi.toscana.it
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Investigador principal:
- Elisabetta Pelo
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Vicenza, Itália, 36100
- Recrutamento
- UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
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Contato:
- Daniela Zuccarello, Medical Doctor
- Número de telefone: +39 0444-753360
- E-mail: genetica@aulss8.veneto.it
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Investigador principal:
- Daniela Zuccarello, Medical Doctor
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Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
- Filho
- Adulto
- Adulto mais velho
Aceita Voluntários Saudáveis
Gêneros Elegíveis para o Estudo
Método de amostragem
População do estudo
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.
Descrição
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.
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
- Modelos de observação: OTHER
- Perspectivas de Tempo: RETROSPECTIVE
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Prazo |
|---|---|
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Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants.
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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 resultados secundários
Medida de resultado |
Prazo |
|---|---|
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Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session
Prazo: 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
Prazo: 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
Prazo: 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.
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Real)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Palavras-chave
Termos MeSH relevantes adicionais
Outros números de identificação do estudo
- KaryoSolver-ONT
Plano para dados de participantes individuais (IPD)
Planeja compartilhar dados de participantes individuais (IPD)?
Descrição do plano 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.
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