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

Launched by UNIVERSITY HOSPITAL, ANGERS · Oct 9, 2024

Keywords

ClinConnect Summary

This clinical trial is studying how to improve the care and follow-up for patients with a rare genetic condition called Pseudoxanthoma Elasticum (PXE). PXE affects various parts of the body, causing problems like unusual skin changes and potential vision and circulation issues. The goal of the study is to better tailor the treatment and support for patients based on their specific needs at different stages of the disease. By using modern methods like telehealth consultations, the researchers aim to increase the number of patients receiving proper care and enhance their overall satisfaction.

To be eligible for this trial, participants must have a confirmed diagnosis of PXE, which can be determined either by specific skin changes or genetic testing. The trial will include patients of all ages, as long as they are treated at the Angers University Hospital, which specializes in rare diseases like PXE. Participants can expect to receive individualized care and might also be invited to share their experiences through interviews to help improve future care for others. It's important to note that patients who do not wish to participate in the research or are under legal guardianship cannot take part in the trial.

Gender

ALL

Eligibility 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