Camille Level, Christel Thauvin-Robinet, Christine Binquet, Yannis Duffourd, Emeline Davoine, Martin Chevarin, Frédéric Tran-Mau-Them, Margot Lemaitre, Ange-Line Bruel, Hana Safraou, Dominique Salvi, Emilie Tisserant, Emmanuelle Lecommandeur, Amandine Charreton, Amir Hassine, Marie de Tayrac, Richard Redon, Julien Barc, Sebatien Schmitt, Juliette Piard, Paul Kuentz, Coline Cormier, Marlène Malbos, Caroline Racine, Brigitte Chabrol, David Cheillan, Véronique Tardy, Estelle Colin, Celine Bris, Sandra Mercier, Mathilde Nizon, Léa Gaudillat, Virginie Loizeau, Camille Lenelle, Nicolas Mottet, Emmanuel Simon, Jean-Baptiste Arnoux, Maud Carpentier, Catherine Renaud, Alban Ziegler, Catherine Lejeune, Anne-Sophie Jannot, Marie-Laure Asensio, Paul Rollier, Sylvie Odent, Stéphane Bezieau, Laurent Pasquier, Frédéric Huet, Laurence Faivre
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引用次数: 0
摘要
导论：由于治疗方法的不断进步和新基因技术的大量发展，成本迅速下降，国际上已经建立了以新生儿筛查（NBS）即基因组NBS （gNBS）为重点的新一代测序试点项目。鉴于法国SeDeN项目在专业人员和家长的预期接受程度方面取得了非常令人鼓舞的成果，现在应该在法国与国际新生儿测序联盟框架下的其他国际倡议合作，开展一个类似的试点项目。方法和分析：PERIGENOMED是一个大型项目，旨在为gNBS在法国的相关性提供第一个具体证据。它包括两项临床试验。我们在这里展示了第一次临床试验选择的设计（perigenome - clinics 1）。perigenome - clinics 1旨在评估法国基于小组的新生儿基因组筛查的可行性、现实世界的可接受性、社会心理影响和组织途径，涉及2500名参与者。将在五个卫生机构中提出针对两种负责可治疗（清单1；400个基因，171种疾病/疾病组）或可行动（清单2；407个基因，218种疾病/疾病组）的罕见和严重早发性疾病的Solo-GS清单。辅助的社会和影响研究也将包括在内。伦理和传播：所有的研究程序都经过法国相关伦理委员会和监管机构的审查和批准（CPP Est ii -2024- a02224 - 43,2025年1月1日）。项目成果将与利益相关者协调，通过同行评议出版物、国内和国际会议以及公众参与倡议进行传播。试验注册号：NCT06875089。
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.
Introduction: International pilot projects focusing on next-generation sequencing in newborn screening (NBS), that is, genomic NBS (gNBS), have been established thanks to continuous therapeutic progress and the massive development of new genetic technologies with rapidly decreasing costs. Given the highly encouraging results of the French SeDeN project regarding anticipated acceptability among professionals and parents, it is now appropriate to launch a similar pilot project in France, in collaboration with other international initiatives under the International Consortium on Newborn Sequencing framework.
Methods and analysis: PERIGENOMED is a large-scale project designed to provide the first concrete evidence on the relevance of gNBS in France. It includes two clinical trials. We present here the design chosen for the first clinical trial (PERIGENOMED-CLINICS 1). PERIGENOMED-CLINICS 1 aims to assess the feasibility, real-world acceptability, psychosocial impact and organisational pathways of panel-based genomic newborn screening in France, involving 2500 participants. Solo-GS targeting two lists of gene-disease dyads responsible for treatable (list 1; 400 genes, 171 diseases/group of diseases) or actionable (list 2 optional; 407 genes, 218 diseases/group of diseases) rare and severe early-onset diseases will be proposed in five health institutions. Ancillary social and impact studies will also be included.
Ethics and dissemination: All study procedures have been reviewed and approved by relevant French ethics committees and regulatory authorities (CPP Est II-2024-A02224-43, 1 January 2025). Results of the project will be disseminated through peer-reviewed publications, national and international conferences, and public engagement initiatives, in coordination with stakeholders.
期刊介绍：
BMJ Open is an online, open access journal, dedicated to publishing medical research from all disciplines and therapeutic areas. The journal publishes all research study types, from study protocols to phase I trials to meta-analyses, including small or specialist studies. Publishing procedures are built around fully open peer review and continuous publication, publishing research online as soon as the article is ready.
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