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

NCT07485660 | Not Yet Recruiting

• 2 other identifiers: RC31/26/00502026-A00322-49
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Fabry; Care pathway; Family screening; Symptoms; Comparison according to gender

Outcome Measures

Primary Outcomes (2)

• Diagnostic time in care pathways between men and women with Fabry's disease

  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

  Data collection at the point of entry into the disease: via symptoms or family screening

  8 months

Study Arms (1)

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

Interventions

Self-questionnaire OTHER

Medical data of Fabry's disease

Fabry's disease patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Any adult patients with a Fabry's disease diagnosis

You may qualify if:

• Adult patient diagnosed with Fabry's disease

You may not qualify if:

• Minor patients

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (1)

Service de Cardiologie - 1 Avenue du Professeur Jean Poulhès

Toulouse, Occitanie, 31400, France

Location

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Central Study Contacts

Olivier LAIREZ

CONTACT

+33561323072; lairez.o@chu-toulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 16, 2026
• First Posted: March 20, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: March 20, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)