Clinical Research Directory

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

Sponsor: University Hospital, Angers

Summary

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.

Official title: Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE) by the PXE Reference Center at the CHU in Angers, France, Thanks to the Implementation of Alternating Pathways, Adapted to Age and Symptomatology, and Including Teleconsultations

Key Details

Conditions

Interventions

Locations (1)