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

NCT06636344 | Not Yet Recruiting

• 1 other identifier: 49RC23_0305
• Study Type: observational
• Target: 650
• Locations: 0 countries
• Sites: N/A

Brief 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.

Conditions

Pseudoxanthoma Elasticum

Outcome Measures

Primary Outcomes (1)

• 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).

  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

Secondary Outcomes (8)

• Optimization of the care pathway by evaluating the impact of alternating pathways adapted to age and clinical symptoms

  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

  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

  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

  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

  Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)

Interventions

Pseudoxanthoma Elasticum OTHER

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.

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients belonging to the CRMR active cohort will be defined by: * for new patients: patients for whom CRMR care has been provided, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR team) was provided within a maximum of 3 months after an initial contact made during the period of interest * for patients already in the CRMR active file (patients who have benefited from at least one care in the last 5 years): patients for whom the CRMR care provided for the period, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR multidisciplinary team, was provided in accordance with the planned frequency with a tolerance window of 6 months.

You may qualify if:

• 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).
• 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.

You may not qualify if:

• Person objecting to participating in the research
• Patient under curatorship, guardianship and legal protection

Sponsors & Collaborators

• University Hospital, Angers: lead

MeSH Terms

Conditions

Pseudoxanthoma Elasticum

Interventions

ABCC6 protein, human

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Study Officials

• Ludovic Martin, Professor

  University Hospital, Angers

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ludovic Martin, Professor

CONTACT

0241353419; LuMartin@chu-angers.fr

Aurélie Hautefort

CONTACT

0241355899; aurelie.hautefort@chu-angers.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 2, 2024
• First Posted: October 10, 2024
• Study Start: March 1, 2025
• Primary Completion (Estimated): January 1, 2031
• Study Completion (Estimated): January 1, 2031
• Last Updated: February 24, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share