Optimizing recruitment and follow-up for people with pseudoxanthoma elasticum
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
This project will try new ways of recruiting and following people with PXE treated at the national reference center to see if care and monitoring improve.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 650 (estimated) |
| Ages | 6 Years and up |
| Sex | All |
| Sponsor | University Hospital, Angers Government |
| Locations | 1 site (Angers) |
| Trial ID | NCT06636344 on ClinicalTrials.gov |
What this trial studies
This is a quasi-experimental before/after program conducted at the Angers University Hospital PXE reference center with three consecutive 2-year periods: a baseline period, a transition period for implementing new pathways, and a post-implementation evaluation period. The primary analysis uses aggregated, non-identifying activity data from the reference center to compare pathway performance before and after the changes. Secondary objectives include patient questionnaires to measure the impact of age- and symptom-adapted alternating care pathways on individual outcomes. Participation is offered to patients with phenotypic or genotypic PXE cared for at the center, and inclusions are independent between periods.
Who should consider this trial
Good fit: Any patient with phenotypic or genotypic PXE who is treated at the Angers CRMR during the study periods is eligible and may be offered inclusion, with patients able to be included in both baseline and post-implementation periods if seen in each.
Not a fit: Patients not managed at the Angers reference center or those with advanced irreversible complications are unlikely to benefit directly from changes in local care pathways.
Why it matters
Potential benefit: If successful, the new recruitment and follow-up pathways could improve timely monitoring, coordination of care, and patient experience for people with PXE.
How similar studies have performed: Care-pathway optimization has improved follow-up and coordination in other rare-disease networks, but applying an alternating, age- and symptom-adapted pathway specifically to PXE is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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 participate in this sub-study and giving their consent for the recording of the interviews will be included. Exclusion Criteria: * Person objecting to participating in the research * Patient under curatorship, guardianship and legal protection
Where this trial is running
Angers
- CHU Angers — Angers, France (Recruiting)
Study contacts
- Principal investigator: Ludovic Martin, Professor — University Hospital, Angers
- Study coordinator: Ludovic Martin, Professor
- Email: LuMartin@chu-angers.fr
- Phone: 0241353419
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.