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

Sponsor
University Hospital, Toulouse
Study ID
NCT07485660
Status
Not Yet Recruiting

Notify me when recruiting opens

Save your spot on the interest list for this study. We'll keep your details with this study so our team can follow up when recruiting opens.

Not yet recruiting

Add your contact details and location so we can keep your interest tied to this study.

Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • Self-questionnaire — OTHER
    Medical data of Fabry's disease

Study Details

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.

Key Dates

Start date
Apr 30, 2026
Status verified
Mar 2026
Primary completion
Nov 30, 2026
Completion
Nov 30, 2026

Study Design

Enrollment
200 participants (estimated)

Arms

  • Arm: Fabry's disease patients
    Male and female patients with Fabry's disease diagnosed by the presence of symptoms or following family screening

Primary Outcome Measure

Diagnostic time in care pathways between men and women with Fabry's disease [ Time Frame: 8 months ]

Central Contacts

Related Studies