An observational study in Pseudoxanthoma Elasticum, sponsored by University Hospital, Angers. Recruiting at 1 site in France. Open to participants aged 6 Years and older. Per ClinicalTrials.gov, last updated 2026-04-06.
Sponsored by University Hospital, Angers · Observational
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:
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 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.
32 studies on the registry are indexed under Pseudoxanthoma Elasticum; 6 are open to participants now.
This study's planned enrollment of 650 is above the median of 80 across 15 observational studies indexed under Pseudoxanthoma Elasticum.
Browse Pseudoxanthoma Elasticum studies →University Hospital, Angers is the lead sponsor of 464 studies on the registry; 116 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients belonging to the CRMR active cohort will be defined by:
Exclusion Criteria:
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.
Evaluation of the impact of alternating pathways adapted to age and clinical symptoms on the number of patients duly followed up
Difference between the number of PXE patients duly followed up over the 2-year period (A5-6), after a period of implementation (2 years) of alternating pathways adapted to age, and the number of PXE patients duly followed up over the 2-year period following the implementation of the study (A1-2).
Time frame: Patients duly followed correspond to: - New patients - Patient already followed at the CRMR corresponding to patients who have received at least one follow-up in the last 5 years whose this follow-up was carried out correctly in accordance with the plan
Optimization of the care pathway by evaluating the impact of alternating pathways adapted to age and clinical symptoms
The number of patients contacted without follow-up: Difference between the number of patients contacted without follow-up: during the period A5-6 and the period A1-2 The number of patients lost to follow-up: Difference between the number of patients lost to follow-up during the period A5-6 and the period A1-2 The time taken to take charge of new patients: Difference between the average time taken to the first effective care (face-to-face consultation, hospitalization or teleconsultation) and the first contact made during the period A1-2 and the period A5-6
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The percentage of patients followed up with a new serious complication between period A5-6 and period A1-2
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The number of patients followed up who completed all the necessary and prescribed examinations between period A5-6 and period A1-2
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The satisfaction score relating to patient care between period A5-6 and period A1-2 using the short version of the PSQ (PSQ-18), a questionnaire regularly used to assess the relevance of telemedicine The PSQ-18 consisted of 18 statements including seven dimensions of satisfaction of medical care measured by : General Satisfaction; Technical Quality; Interpersonal Manner; Communication; Financial Aspects; Time Spent with Doctor; Accessibility and Convenience. Response were given on a five point scale ranging from strongly agree to strongly disagree. High scores reflect satisfaction with medical care
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The confidence score relating to patient care between period A5-6 and period A1-2 (Likert scale from 0-Not at all confident to 5-Completely confident) assessed in patients and their treating physicians
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The quality of life score of patients between period A5-6 and period A1-2 using the SF-12 SF-12 : consists of 12 questions covering physical and mental health domains. Scores above 50 indicate a better-than-average health-related quality of life, while scores below 50 suggest below-average health
Time frame: At enrollment and during routine case follow up (time frame is patient dependent)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The satisfaction score of the treating physician relating to patient care between period A5-6 and period A1-2 using the questionnaire SAPHORA. Calculation of a score per item: assignment of a scale to each modality of response whose value increases with the level of satisfaction (0-25-50-75-100)
Time frame: At enrollment and during routine case follow up (time frame is patient dependent)
Evaluation of the implementation of new alternating care pathways
Semi-directed interviews will be carried out with the various stakeholders involved in this reorganization of care
Time frame: 1 hour
Plan to share: No
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University Hospital, Angers