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Study to Compare Traditional and Emerging Methods for Structural Variant Analysis in Prenatal, Postnatal, and Hematologic Samples

2026年11月5日更新者：4bases Italia Srl

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.

研究概览

地位

招聘中

条件

详细说明

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.

研究类型

观察性的

注册 (估计的)

200

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

姓名：Giulia Fugazza, Clinical Project Manager
电话号码：+41 (0) 91 224 70 81
邮箱：info@4bases.ch

学习地点

意大利
- - Florence、意大利、50134
    - 招聘中
    - SOD Diagnostica Genetica Azienda Osepdaliero-Universitaria Careggi
    - 接触：
      
      Elisabetta Pelo, Medical Doctor
      
      邮箱：infogenetica@aou-careggi.toscana.it
    - 首席研究员：
      
      Elisabetta Pelo
  - Vicenza、意大利、36100
    - 招聘中
    - UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
    - 接触：
      
      Daniela Zuccarello, Medical Doctor
      
      电话号码：+39 0444-753360
      
      邮箱：genetica@aulss8.veneto.it
    - 首席研究员：
      
      Daniela Zuccarello, Medical Doctor

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

孩子
成人
年长者

接受健康志愿者

不

有资格学习的性别

全部

取样方法

非概率样本

研究人群

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.

描述

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.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

观测模型：OTHER
时间观点：RETROSPECTIVE

研究衡量的是什么？

主要结果指标

结果测量	大体时间
Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants. 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Agreement on the presence/absence of clinically relevant chromosomal alterations between KaryoSolver and reference methods 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Agreement by category of identified alteration (aneuploidies, deletions, duplications) between KaryoSolver and reference methods 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Percentage of cases correctly classified by KaryoSolver compared to the reference comparator 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year

次要结果测量

结果测量	大体时间
Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Inter-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in different sessions 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Average analytical run time per sample with KaryoSolver compared to reference methods 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Average total reporting time/turnaround time with KaryoSolver compared to reference methods. 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Reduction in technical/interpretive workload, assessed in terms of man-hours or the number of manual tasks required 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Average cost per sample analyzed with KaryoSolver compared to reference methods 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year
Proportion of cases potentially eligible for faster diagnosis using KaryoSolver compared to the standard workflow 大体时间：through study completion, an average of 1 year	through study completion, an average of 1 year

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

4bases Italia Srl

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2026年9月22日

初级完成 (估计的)

2027年6月1日

研究完成 (估计的)

2027年9月1日

研究注册日期

首次提交

2026年10月12日

首先提交符合 QC 标准的

2026年11月5日

首次发布 (实际的)

2026年11月12日

研究记录更新

最后更新发布 (实际的)