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

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.

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Service de Cardiologie - 1 Avenue du Professeur Jean Poulhès

Toulouse, Occitanie, 31400, France

Location contact

Olivier LAIREZ, MD

CONTACT

[email protected]

561323072 ext. +33

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Adult patient diagnosed with Fabry's disease

Exclusion criteria

Minor patients

Treatment and study plan

Self-questionnaire

Other

Medical data of Fabry's disease

Primary outcomes

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.
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

Study contacts

Contact information is provided by the study sponsor or research team.

Olivier LAIREZ

CONTACT

[email protected]

+33561323072

Sponsors and collaborators

Lead sponsor

University Hospital, Toulouse

Other

Registry information

Acronym: Fabry-PATH

Important dates

Study start: 2026
Primary completion: 2026
Study completion: 2026
First posted: Mar 20, 2026
Registry last updated: Mar 20, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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