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Status epilepticus (SE) in adults is a serious neurological emergency that can lead to high morbidity and mortality rates. Although functional outcomes are often assessed using general scoring systems, limited data on health-related quality of life (HRQoL) in patients admitted to intensive care units (ICUs) are still limited. Furthermore, comprehensive evaluations of patient-reported physical, cognitive, mental health and psychological outcomes are lacking in this population. POSEIDON 2 aims to assess HRQoL and cognitive, physical and psychological impairments at 3 and 12 months after ICU discharge following SE and quantify caregiver burden.
POSEIDON 2 is a prospective, multicentre, longitudinal study conducted in 19 French ICUs. The study combines data from the SE ICTAL Registry with data from patients who survived admission to the ICU for SE, who will be recruited for the study. The study also includes patient-reported outcome (PRO) data collected 3 (M3) and 12 (M12) months after discharge from the ICU using validated instruments. The Zarit scale will be used to measure the burden on caregivers at M3 and M12. The primary endpoint is the prevalence of overall HRQOL impairment at M3 and M12, as defined by dichotomous scores on the physical and mental components of the 36-Item Short Form Health Survey compared with those of the general population. Secondary endpoints include domain-specific impairments, such as cognitive function, dependence, mental health and patient experiences. The sample size has been calculated based on an estimated prevalence of 75% for HRQoL impairment, with a planned sample size of 140 patients.
The POSEIDON 2 study protocol received ethical approval from the ethics committee ‘Comité de Protection des Personnes Ouest VI’ on 5 October 2023 (#2023-A01223-42). The study is conducted in accordance with the Declaration of Helsinki, Good Clinical Practice and the regulatory requirements of France. Written informed consent is obtained from participants, who are able to decline participation or withdraw from the study at any time. Findings will be disseminated through publication in peer-reviewed journals and presentations at scientific conferences.
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.
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.
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.
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