Employment of Patients With Pseudoxanthoma Elasticum
Condition: Pseudoxanthoma Elasticum; Employment
MeSH terms: Pseudoxanthoma Elasticum
Study type: Observational

Summary: 
      Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive genetic disease characterized
      by progressive calcification and fragmentation of elastic fibers in connective tissues. PXE
      primarily affect the skin, retina and arterial walls. Given the age of onset and progression
      of the disease, the consequences of PXE affect a large number of patients of working age and
      are therefore likely to have an impact on their professional career and job retention.

      To our knowledge, there are no studies on the occupational impact of PXE.
    

Detailed description: 
      This is an epidemiological, descriptive and analytical, cross-sectional, monocentric study,
      carried out by telephone questionnaire on the national cohort of the PXE Reference Center in
      the Dermatology Department of the Angers University Hospital.

      Eligible subjects will be pre-selected by the study investigators on the basis of the medical
      file. A letter of information about the study will be sent to all the pre-selected eligible
      patients, with the exception of patients who have expressed an objection to the processing of
      their data for research purposes.

      The investigators will contact eligible patients by telephone approximately 2 weeks after the
      mailing of the information letter. During this telephone call, the investigator will answer
      any questions the patient may have about the study and will collect the patient's
      non-objection to participate in the study and their responses to the questionnaire.

      In the absence of a validated questionnaire to meet the objectives of the study, a
      questionnaire was created.

      This questionnaire was tested in order to verify its feasibility and clarity. Medical data
      (age at diagnosis, age at referral to the Reference Centre, organ damage and clinical
      manifestations present at the time of the survey, treatments, etc.) will be collected from
      the medical file and the answers to the questionnaire will be collected by telephone on
      paper. Data will be collected in a coded manner. A correspondence list will be kept, under
      the responsibility of the principal investigator.

      No follow-up of patients is planned by the study.

      The results of this study should make it possible to provide new data on the impact of PXE on
      the career path and job retention of patients, as well as the medical reasons linked to it.
      It should also make it possible to improve knowledge on the experience of the consequences of
      PXE for patients in the workplace, as well as the actors and tools for job retention
      mobilised in these situations. All of these elements should make it possible to improve the
      prevention of the professional deintegration of PXE patients, in particular by setting up
      systematic and early management of patient-workers presenting a declared PXE.
    

Intervention name(s): Telephone Call
Intervention type(s): Other
Intervention description(s): Eligible subjects will be pre-selected by the study investigators on the basis of the medical file. A letter of information about the study will be sent to all the pre-selected eligible patients, with the exception of patients who have expressed an objection to the processing of their data for research purposes during their treatment.
The investigators will contact eligible patients by telephone approximately 2 weeks after the mailing of the information letter. During this telephone call, the investigator will answer any questions the patient may have about the study and will collect the patient's non-objection to participate in the study and their responses to the questionnaire.
Observational model: Cohort
Time perspective: Retrospective
Sampling method: Non-Probability Sample
Study population: 
        French PXE cohort (ClinicalTrials.gov Identifier: NCT01446380)
      
Keywords: Employment retention; DIsease impact