Actively Recruiting
Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE) by the Reference Center Including Teleconsultations
Led by University Hospital, Angers · Updated on 2026-04-06
650
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder causing abnormal calcium deposits in the skin, eyes, and arteries, leading to symptoms like skin lesions, intermittent leg pain, strokes, retinal bleeding, and vision loss. These symptoms usually appear and worsen slowly over a lifetime, mainly affecting adults in later life, and have a significant impact on daily functioning. The study aims to evaluate a new way to recruit and follow PXE patients, adapting care paths to different patient profiles and including teleconsultations to improve patient monitoring and satisfaction. The study uses a before-and-after design with three periods over six years: Period A1-2 continues current recruitment and care methods to collect baseline data; Period A3-4 is a two-year transition implementing new alternating care pathways; Period A5-6 evaluates these new pathways when fully operational. The alternating pathways are tailored to patient age and symptoms and include multidisciplinary teleconsultations. Patients will be monitored through questionnaires and interviews to assess the impact of these changes. Participants will be PXE patients treated at the reference center who meet specific diagnostic criteria. Researchers will analyze overall patient follow-up data before and after the new system, including quality of life, satisfaction, and confidence questionnaires, plus interviews with patients, relatives, and doctors. The main measure is the number of patients properly followed up under the new care model, with ongoing data collection over the study periods to compare outcomes and optimize care.
CONDITIONS
Brief Title
Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients treated at the PXE reference center during study periods A1-2 or A5-6
- Diagnosis of PXE by skin lesions with biopsy for patients under 25 years old
- Diagnosis of PXE by skin lesions and eye findings for patients over 25 years old
- Diagnosis of PXE by genetic testing showing two ABCC6 gene variants regardless of age
- Patients willing to participate in questionnaires and interviews if selected
You will not qualify if you...
- Individuals who object to participating in the research
- Patients under curatorship, guardianship, or legal protection
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 6 years
Participants who undergo routine care are observed during different periods to evaluate the impact of alternating care pathways adapted to age and clinical symptoms on the quality and optimization of care.
Visits occur according to routine care schedules at the PXE reference center
Duration - Throughout the monitoring periods as applicable
Participants complete questionnaires and may participate in interviews to assess quality of life, satisfaction, and confidence related to their care.
Questionnaires completed at enrollment and during routine follow-up visits; interviews for selected participants
Trial Site Locations
Total: 1 location
1
CHU Angers
Angers, France, 49033
Actively Recruiting
Research Team
L
Ludovic Martin, Professor
A
Aurélie Hautefort
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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