Care Pathway for Patients With Fabry's Disease (Fabry-PATH)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Self-questionnaire.
- Who it may be relevant to
- Registry conditions: Fabry Disease. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Other Self-questionnaire
Medical data of Fabry's disease
Primary outcome measures
- Diagnostic time in care pathways between men and women with Fabry's disease [Time frame: 8 months]
- Comparison of diagnostic methods between men and women [Time frame: 8 months]
Eligibility criteria
Inclusion criteria
- Adult patient diagnosed with Fabry's disease
Exclusion criteria
- Minor patients
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Service de Cardiologie - 1 Avenue du Professeur Jean Poulhès — Toulouse
Identifiers
NCT: NCT07485660 · RC31/26/0050 · 2026-A00322-49