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

NCT06636344 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 650

Last updated 2026-04-06

No results posted yet for this study

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.

Conditions

  • Pseudoxanthoma Elasticum

Interventions

OTHER

Pseudoxanthoma Elasticum

Answer to the PSQ-18, patient care confidence score (likert scale) and SF-12 questionaries at each visit, for an estimated duration of 15 minutes.

Sponsors & Collaborators

  • University Hospital, Angers

    lead OTHER_GOV

Principal Investigators

  • Ludovic Martin, Professor · University Hospital, Angers

Eligibility

Min Age
6 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-02-09
Primary Completion
2031-01-31
Completion
2031-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06636344 on ClinicalTrials.gov