Contribution of New Generation Oxford Nanopore-type High-throughput Sequencing in the Diagnostic Strategy of Neurogenetic Diseases. (NEURONGS3)
Since 2012, NGS sequencing of long fragments or long reads has developed in various fields of research and today presents itself as a very promising alternative solution in the analysis of repeat amplifications. The Oxford Nanopore NGS automaton offers the prospect of bringing together 1st and 2nd line analyzes of all loci potentially indicated in neurogenetics at the same time. The project aims to compare the use of this new technology with methods currently used in reference laboratories.
The main objective is to evaluate the ability of next-generation high-throughput Oxford Nanopore-type sequencing (NEURONGS3) to diagnose 9 neurogenetic diseases compared to reference protocols via PCR (+/- Southern blot).
The secondary objective is to evaluate the repeatability of the NGS (intra-sample reproducibility) analysis in the diagnosis of 8 neurogenetic diseases.
調査の概要
状態
条件
詳細な説明
Since 2012, NGS sequencing of long fragments or long reads has developed in various fields of research and today presents itself as a very promising alternative solution in the analysis of repeat amplifications. The Oxford Nanopore NGS automaton offers the prospect of bringing together 1st and 2nd line analyzes of all loci potentially indicated in neurogenetics at the same time. The project aims to compare the use of this new technology with methods currently used in reference laboratories.
Multicenter cross-sectional early phase diagnostic study on already existing biological collections. Analyzes with the new technique (NGS) will be carried out blinded to the results obtained with the current reference algorithm based on the sequential performance of PCRs The main objective is to evaluate the ability of next-generation high-throughput Oxford Nanopore-type sequencing (NEURONGS3) to diagnose 9 neurogenetic diseases compared to reference protocols via PCR (+/- Southern blot).
The secondary objective is to evaluate the repeatability of the NGS (intra-sample reproducibility) analysis in the diagnosis of 8 neurogenetic diseases.
研究の種類
入学 (予想される)
連絡先と場所
参加基準
適格基準
就学可能な年齢
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
説明
Inclusion Criteria:
- minors, adults and protected adults.
- Subject carrying an amplification of nucleotide repeats in one of the following 9 genes FMR1, DMPK, ZNF9, SCA2, JPH3, HD, FXN, C9ORF72, RFC1
- DNA available in sufficient quantity (5 to 10 µg)
Exclusion Criteria:
- DNA degraded or of medium size <30kb,
- Patient objection to research - This patient objection must be reached to the center's investigator within 1 maximum period of 1 month after sending the information note.
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
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 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Proportion of patients tested positive by Next Generation Sequencing among all the patients tested positive by the current algorithm based on PCRs
時間枠：through study completion, an average of 2 years
|
For each of the 9 considered diseases, the proportion will be established as well as its 95% confidence interval.
|
through study completion, an average of 2 years
|
二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Difference between the number of repetition amplifications found by the Next Generation Sequencing method and the number of repetition amplifications found by the PCR diagnosis method
時間枠：through study completion, an average of 2 years
|
For each of the 9 considered diseases, the number of repetition amplifications found by the Next Generation Sequencing method will be compared to the number of repetition amplifications found by the PCR diagnosis method using the Bland et Altman graphs.
The average and standard deviation of the difference will be calculated.
|
through study completion, an average of 2 years
|
協力者と研究者
捜査官
- 主任研究者：Cyril GOIZET、University Hospital, Bordeaux
研究記録日
主要日程の研究
研究開始 (予想される)
一次修了 (予想される)
研究の完了 (予想される)
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
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