Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE)

Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by ectopic calcifications in the skin, retina and arterial walls. Angers University Hospital is the national rare disease reference center (CRMR) for PXE. Although PXE is hereditary, its main clinical manifestations (unsightly skin lesions, intermittent arterial claudication, stroke, retinal bleeding and blindness) are delayed and slowly progress over the course of a lifetime. They are rarely life-threatening but have a major functional impact. To date, management of PXE is purely preventive and symptomatic. Three successive "states" can be individualized during PXE course, corresponding to three very different patient profiles in terms of age, clinical manifestations, occurrence of complications and their treatment. PXE is essentially a severe disease in adults in the second half of life. This contrasts with the presence of many patients seen for their follow-up at school age or in employment, and at the age of children. It is therefore necessary to optimize the recruitment of PXE patients and to rethink their follow-up by the CRMR. The investigators hypothesize that the implementation of alternating treatment paths, better adapted to each of the three patient profiles, including multidisciplinary teleconsultations, will not only increase the number of patients monitored by the CRMR and benefit from referral care, but also to optimize care, for greater patient satisfaction, their local doctors and the CRMR team.

This is a quasi-experimental study evaluating the impact of new support modalities according to a before/after design with an intermediate transition period of 2 years necessary for the proper deployment of these new modalities. The study includes 3 separate periods of 2 years from its implementation: * Period A1-2: continuation of the recruitment, monitoring and care methods for PXE patients as they are currently carried out. This period will allow the collection of baseline evaluation criteria * Period A3-4 (intermediate period without evaluation/monitoring of indicators): gradual implementation of the internal organizational changes necessary for the deployment of alternating pathways. * Period A5-6 (second period of interest for the evaluation of indicators): evaluation of fully operational alternating pathways for the recruitment, monitoring and care of PXE patients. This period will allow the collection of evaluation criteria and comparison with those of baseline). For the main objective and the first secondary objectives relating to the optimization of the care pathway, the analysis will be carried out using global activity data at the CRMR level (non-identifying aggregated data). This research involving humans is qualified as non-interventional research because to respond to : * the second secondary objective about 'Evaluation of the impact of alternating courses adapted to age and clinical symptoms on the following criteria', patients will answer questionnaires specific to the study (quality of life, satisfaction and confidence for the patient and the treating physicians involved) * the third secondary objective, semi-directed interviews will be carried out for patients, relatives (except parents) and treating physicians who agree to participate in the qualitative sub-study. The overall activity data of the CRMR will be collected retrospectively and prospectively on the basis of all source data in order to characterize the evolution of the active file in terms of patients "duly followed up", "contacts without follow-up" or "lost to follow-up" during periods A1-A2 and A5-A6.

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