Employment of Patients With Pseudoxanthoma Elasticum

NCT05246189 | Completed

• 1 other identifier: 2021-A03008-33
• Study Type: observational
• Target: 99
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Pseudoxanthoma Elasticum; Employment

Keywords

Employment retention; DIsease impact

Outcome Measures

Primary Outcomes (1)

• Percentage of job loss due to PXE

  Percentage of patients whose employment was modified or discontinued due to PXE.

  At enrolment

Secondary Outcomes (3)

• Percentage of job loss due to the vascular impact

  At enrolment

• Percentage of job loss due to the visual impact

  At enrolment

• Percentage of job loss due to the skin impact

  At enrolment

Study Arms (1)

Patient with PXE working aged

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

Other: Telephone Call

Interventions

Telephone Call OTHER

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.

Patient with PXE working aged

Eligibility Criteria

• Age: 18 Years - 64 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

French PXE cohort (ClinicalTrials.gov Identifier: NCT01446380)

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (1)

MARTIN Ludovic

Angers, 49933, France

Location

Related Publications (3)

• 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.

  PMID: 8537157 RESULT

• 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.

  PMID: 33925341 RESULT

• 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.

  PMID: 22152229 RESULT

MeSH Terms

Conditions

Pseudoxanthoma Elasticum

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

• Denise JOLIVOT, MD

  Clinical Research And Innovation Delegation Angers University Hospital

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 21, 2022
• First Posted: February 18, 2022
• Study Start: April 7, 2022
• Primary Completion: September 9, 2022
• Study Completion: September 9, 2022
• Last Updated: February 13, 2023

Record last verified: 2022-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)