Analysis of Barriers to Early Access to Pediatric Palliative Care for People with Lysosomal Diseases

The PAL-LY-PRÉCOCE project aims to analyze the factors that influence early access to pediatric palliative care (PPC) for children with lysosomal diseases. Although PPC is now recognized as an essential component of the management of serious and progressive childhood diseases, its integration into care pathways is often delayed. This situation may limit the potential benefits of these services for children and their families, particularly in terms of quality of life, psychosocial support, and anticipating future needs.

In the specific context of lysosomal diseases—rare conditions characterized by significant clinical heterogeneity and complex disease trajectories—the conditions under which SPPs are introduced remain poorly documented. The project aims to explore the barriers and enablers that influence the timing of access to SPPs.

The methodology is based on semi-structured interviews with patients, their family members, and/or caregivers (including siblings if deemed appropriate by the parents), specialists in lysosomal storage disorders, primary and specialized care professionals, and potentially members of associations such as VML. The interviews will be conducted in France (metropolitan France and the overseas departments and territories) with a sample of at least twenty interviews. The sample size will be adjusted based on data saturation, following the principle of thematic redundancy observed in the interviews (Guest, G., Bunce, A., & Johnson, L., 2006).

Data transcription may be performed using Copilot (to ensure data is retained within the CLB). The analysis of the collected data aims to identify the organizational, relational, and representational dimensions likely to influence how SPPs are offered, perceived, and utilized in the course of illness. The expected results should provide a better understanding of the barriers to the early integration of SPPs and identify avenues for improving practices and support systems.

By conducting a detailed analysis of professional experiences and practices, the project aims to contribute to the development of recommendations designed to promote earlier and more appropriate access to SPPs for children with lysosomal storage disorders and their families.