Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE) (NCT06636344) | Clinical Trial Compass
RecruitingNot Applicable
Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE)
France650 participantsStarted 2026-02-09
Plain-language 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.
Who can participate
Age range
6 Years
Sex
ALL
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Inclusion Criteria:
* For the main objective and the first secondary objectives : The population taken into account corresponds to all the support and requests managed by the CRMR over the periods of interest (period A1-2 and period A5-6).
* Inclusion in REMOTE-PXE is offered to any patient with a PXE, defined phenotypically or genotypically (see below), treated at the CRMR during the periods of interest. Note that inclusions are independent between the 2 periods (a patient included during period A1-2 can be included again if he/she is treated during period A5-6). PXE is defined phenotypically:
* by the presence of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) in patients under 25 years of age
* OR by the combination of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) and specific ophthalmologic lesions, complicated or not (depending on age: orange peel, angioid streaks, retinal dystrophy) over 25 years of age PXE is defined genotypically, regardless of the patient\'s age, by the identification of two variants in the ABCC6 gene.
* Participation in the qualitative study (semi-directed interviews) will be offered to a sample of patients included in the RIPH during the A5-A6 period among patients who were already followed before the A3-A4 period since the objective is to collect their experiences and perceptions of this reorganization of care. Only patients agreeing to participa…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Evaluation of the impact of alternating pathways adapted to age and clinical symptoms on the number of patients duly followed up
Timeframe: 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