Care Pathway for Patients With Fabry's Disease (Fabry-PATH)

NCT07485660 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2026-03-20

No results posted yet for this study

Summary

Fabry's disease is an X-linked disorder that manifests differently in men and women, leading to differences in healthcare pathways. In women, the disease is sometimes diagnosed through family screening despite the presence of symptoms (symptoms appear later than in men, and the phenotypic expression of the disease is sometimes more subtle). Conversely, in men, the presence of symptoms combined with abnormalities in medical examinations facilitates diagnosis. There is limited data on the differences in healthcare pathways between men and women, which could nevertheless impact diagnosis by identifying a profile of at-risk patients, and consequently, their management.

The goal of this present study is to describe the differences in care pathways between men and women with Fabry's disease, distinguishing entry via symptoms or family screening through a non-interventional study based on a questionnaire sent to patients and on the collection of medical data at the time of diagnosis.

Conditions

Interventions

OTHER

Self-questionnaire

Medical data of Fabry's disease

Sponsors & Collaborators

  • University Hospital, Toulouse

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-04-30
Primary Completion
2026-11-30
Completion
2026-11-30

Countries

  • France

Study Locations

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Entities

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07485660 on ClinicalTrials.gov