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

Condition(s) studied

Investigational drug(s) / intervention(s)

Self-questionnaire: Medical data of Fabry's disease

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.

Eligibility

Primary outcome measure(s)

• Diagnostic time in care pathways between men and women with Fabry's disease — 8 months
  The average diagnostic time, compared between men and women, and the diagnostic methods (entry point into the disease), compared according to sex.
• Comparison of diagnostic methods between men and women — 8 months
  Data collection at the point of entry into the disease: via symptoms or family screening

Trial sites (1)

More University Hospital, Toulouse trials in France

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