Employment of Patients With Pseudoxanthoma Elasticum (MEE-PXE)

Employment Retention Issues for Patient With Pseudoxanthoma Elasticum

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.

Study Overview

• Status: Completed
• Conditions: Pseudoxanthoma Elasticum; Employment
• Intervention / Treatment: Other: Telephone Call

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.

• Study Type: Observational
• Enrollment (Actual): 99

Contacts and Locations

Study Locations

• France
  • Angers, France, 49933
    • MARTIN Ludovic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 64 years (ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

French PXE cohort (ClinicalTrials.gov Identifier: NCT01446380)

Description

Inclusion Criteria:

• PXE
• Working age / Unemployed / Retired less than 2 years

Exclusion Criteria:

• Presence of one or more physical or psychological comorbidity likely to have an impact on the career path and job retention.
• Poor understanding of the french language
• Objection to participating in research

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Patient with PXE working aged; Patient diagnosed with PXE on working age and followed up by the French Reference Center.

Other: Telephone Call; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percentage of job loss due to PXE	Percentage of patients whose employment was modified or discontinued due to PXE.	At enrolment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percentage of job loss due to the vascular impact	Percentage of patients whose employment was modified or discontinued due to the vascular impact of PXE. Vascular impact will be assessed by their last Ankle Brachial Index measurement.	At enrolment
Percentage of job loss due to the visual impact	Percentage of patients whose employment was modified or discontinued due to the visual impact of PXE. Visual impact will be assessed by their last Visual acuity measurement.	At enrolment
Percentage of job loss due to the skin impact	Percentage of patients whose employment was modified or discontinued due to the skin impact of PXE. Skin impact will be assessed by the presence of skin damage due to PXE in the cervical and/or antecubital areas.	At enrolment

Collaborators and Investigators

• Sponsor: University Hospital, Angers

Publications and helpful links

General Publications

• Gupta MA, Gupta AK. Age and gender differences in the impact of psoriasis on quality of life. Int J Dermatol. 1995 Oct;34(10):700-3. doi: 10.1111/j.1365-4362.1995.tb04656.x.
• Shimada BK, Pomozi V, Zoll J, Kuo S, Martin L, Le Saux O. ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions. Int J Mol Sci. 2021 Apr 27;22(9):4555. doi: 10.3390/ijms22094555.
• Finger RP, Fenwick E, Marella M, Charbel Issa P, Scholl HP, Holz FG, Lamoureux EL. The relative impact of vision impairment and cardiovascular disease on quality of life: the example of pseudoxanthoma elasticum. Health Qual Life Outcomes. 2011 Dec 12;9:113. doi: 10.1186/1477-7525-9-113.

Study record dates

Study Major Dates

• Study Start (ACTUAL): April 7, 2022
• Primary Completion (ACTUAL): September 9, 2022
• Study Completion (ACTUAL): September 9, 2022

Study Registration Dates

• First Submitted: January 21, 2022
• First Submitted That Met QC Criteria: February 14, 2022
• First Posted (ACTUAL): February 18, 2022

Study Record Updates

• Last Update Posted (ACTUAL): February 13, 2023
• Last Update Submitted That Met QC Criteria: February 9, 2023
• Last Verified: February 1, 2022

More Information

Terms related to this study

• Keywords: Employment retention; DIsease impact
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Skin Diseases; Congenital Abnormalities; Hematologic Diseases; Hemorrhagic Disorders; Genetic Diseases, Inborn; Connective Tissue Diseases; Hemostatic Disorders; Skin Diseases, Genetic; Skin Abnormalities; Pseudoxanthoma Elasticum
• Other Study ID Numbers: 2021-A03008-33

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No