Fabry DiseaseFabry-PATHNCT07485660
Care Pathway for Patients With Fabry's Disease (Fabry-PATH)
An observational study of Fabry Disease, run by University Hospital, Toulouse at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Self-questionnaire
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2026to Nov 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Any adult patients with a Fabry's disease diagnosis
Who may be able to join
- Adult patient diagnosed with Fabry's disease
Who cannot join
- Minor patients
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Service de Cardiologie - 1 Avenue du Professeur Jean Poulhès
Toulouse, Occitanie, 31400
Olivier LAIREZ, MD, 561323072 ext. +33, lairez.o@chu-toulouse.fr
About this study
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
- Being tested
- Self-questionnaire
- Keywords
- Fabry, Care pathway, Family screening, Symptoms, Comparison according to gender
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Self-questionnaireOther
Medical data of Fabry's disease
| Study group | Role | What they receive |
|---|---|---|
| Fabry's disease patients | Male and female patients with Fabry's disease diagnosed by the presence of symptoms or following family screening Receives: Other: Self-questionnaire |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Measured: 8 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Mar 2026
- Study startApr 2026 (estimated)
- Primary completionNov 2026 (estimated)
- Study completionNov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07485660
- Sponsor's protocol ID
- RC31/26/0050
- Other IDs
- 2026-A00322-49
- Acronym
- Fabry-PATH
- Status last verified
- Mar 2026
- First submitted
- 16 Mar 2026
- Last updated
- 20 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Care Pathway for Patients With Fabry's Disease (Fabry-PATH)
- ClinicalTrials.gov ID
- NCT07485660
- Acronym / sponsor ID
- Fabry-PATH / RC31/26/0050
- Conditions
- Fabry Disease
- Keywords
- Fabry, Care pathway, Family screening, Symptoms, Comparison according to gender
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- Apr 2026 (estimated)
- Primary completion
- Nov 2026 (estimated)
- Study completion
- Nov 2026 (estimated)
- First posted
- 20 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Fabry's disease patients | – | Other: Self-questionnaireMale and female patients with Fabry's disease diagnosed by the presence of symptoms or following family screening |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Any adult patients with a Fabry's disease diagnosis
Key inclusion criteria (1 listed)
- Adult patient diagnosed with Fabry's disease
Key exclusion criteria (1 listed)
- Minor patients
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Self-questionnaireMedical data of Fabry's disease | Other | Fabry's disease patients |
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by University Hospital, Toulouse at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 20 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Olivier LAIREZ (+33561323072, lairez.o@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic time in care pathways between men and women with Fabry's disease (time frame: 8 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Mar 2026.