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

March 16, 2026 updated by: University Hospital, Toulouse

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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
    • Occitanie
      • Toulouse, Occitanie, France, 31400
        • Service de Cardiologie - 1 Avenue du Professeur Jean Poulhès
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Any adult patients with a Fabry's disease diagnosis

Description

Inclusion Criteria:

  • Adult patient diagnosed with Fabry's disease

Exclusion Criteria:

  • Minor patients

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Fabry's disease patients
Male and female patients with Fabry's disease diagnosed by the presence of symptoms or following family screening
Other: Self-questionnaire
Medical data of Fabry's disease

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Toulouse

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

April 1, 2026

Primary Completion (Estimated)

November 1, 2026

Study Completion (Estimated)

November 1, 2026

Study Registration Dates

First Submitted

March 16, 2026

First Submitted That Met QC Criteria

March 16, 2026

First Posted (Actual)

March 20, 2026

Study Record Updates

Last Update Posted (Actual)

March 20, 2026

Last Update Submitted That Met QC Criteria

March 16, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RC31/26/0050
  • 2026-A00322-49 (Other Identifier: ANSM)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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