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.
調査の概要
詳細な説明
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.
研究の種類
入学 (推定)
連絡先と場所
研究連絡先
- 名前：Giulia Fugazza, Clinical Project Manager
- 電話番号：+41 (0) 91 224 70 81
- メール：info@4bases.ch
研究場所
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Florence、イタリア、50134
- 募集
- SOD Diagnostica Genetica Azienda Osepdaliero-Universitaria Careggi
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コンタクト：
- Elisabetta Pelo, Medical Doctor
- メール：infogenetica@aou-careggi.toscana.it
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主任研究者：
- Elisabetta Pelo
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Vicenza、イタリア、36100
- 募集
- UOSD Genetica Medica e Genomica Azienda ULSS8 Berica
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コンタクト：
- Daniela Zuccarello, Medical Doctor
- 電話番号：+39 0444-753360
- メール：genetica@aulss8.veneto.it
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主任研究者：
- Daniela Zuccarello, Medical Doctor
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参加基準
適格基準
就学可能な年齢
- 子
- 大人
- 高齢者
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
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.
説明
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.
研究計画
研究はどのように設計されていますか？
デザインの詳細
- 観測モデル：OTHER
- 時間の展望：RETROSPECTIVE
この研究は何を測定していますか？
主要な結果の測定
結果測定 |
時間枠 |
|---|---|
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Overall diagnostic concordance between KaryoSolver and reference methods for the identification of clinically detectable structural variants.
時間枠：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
時間枠：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
時間枠：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
時間枠：through study completion, an average of 1 year
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through study completion, an average of 1 year
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二次結果の測定
結果測定 |
時間枠 |
|---|---|
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Intra-run reproducibility of KaryoSolver, assessed as the agreement of results obtained from replicates analyzed in the same session
時間枠：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
時間枠：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
時間枠：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.
時間枠：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
時間枠：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
時間枠：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
時間枠：through study completion, an average of 1 year
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through study completion, an average of 1 year
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協力者と研究者
スポンサー
研究記録日
主要日程の研究
研究開始 (実際)
一次修了 (推定)
研究の完了 (推定)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (実際)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
キーワード
その他の研究ID番号
- KaryoSolver-ONT
個々の参加者データ (IPD) の計画
個々の参加者データ (IPD) を共有する予定はありますか?
IPD プランの説明
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.
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。