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.

NCT06875089.

Type 1 diabetes mellitus (T1DM) is a chronic disease that requires lifestyle amendment, demanding treatment and regular glycaemic control, all of which can significantly impact the health-related quality of life (HRQoL) of affected children. This study aimed to assess the HRQoL of T1DM in a Tunisian paediatric population and to identify the influencing factors.

This was a cross-sectional study.

The study was conducted at a tertiary care paediatric hospital in Tunis, Tunisia, over a 6-month period from November 2022 to April 2023.

A total of 120 children with T1DM, aged 3–17 years, and their parents were enrolled. Inclusion criteria included children with a confirmed diagnosis of T1DM and regular follow-up at the study centre.

HRQoL of children with T1DM was assessed using the validated Tunisian version of the KINDL-R questionnaire. The KINDL-R scores range from 0 to 100, with higher scores indicating better perceived HRQoL.

We included 120 children with T1DM. HRQoL was considered satisfactory in 94 children (78.3%), with a mean total score of 69±20.8 (range: 21.4–99.3). Parents reported significantly lower HRQoL scores compared with their children’s self-assessments, with a mean total score of 59.2±20.4 (range: 14.3–97.5). Multivariate linear regression analysis identified several factors independently associated with impaired HRQoL, including a glycated haemoglobin level >9%, a child’s age greater than 14 years, a history of ketoacidosis decompensation, a daily insulin dose ≥0.78 IU/kg/day, more than 10 hypoglycaemic episodes per month and parental divorce. Conversely, the use of insulin analogues and good academic performance were independently associated with a more satisfactory HRQoL.

T1DM is not exclusively a clinical and biological condition, but it also affects the psychological well-being of the child and the entire family dynamic. Despite its recognised importance, psychosocial support is still insufficient. Therapeutic education programmes seem to be a relevant initiative for improving the HRQoL of children with T1DM.