NCT07485660

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

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 200 (estimated)
• Sponsor: University Hospital, Toulouse · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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

• Fabry Disease

Interventions

Type	Name	Description
OTHER	Self-questionnaire	Medical data of Fabry's disease

Timeline

• Start date: 2026-04-01
• Primary completion: 2026-11-01
• Completion: 2026-11-01
• First posted: 2026-03-20
• Last updated: 2026-03-20

Locations

1 site across 1 country: France