Quality of life for people 65+ with Fabry disease, treated or untreated
Official title: Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Run by Groupe Hospitalier Diaconesses Croix Saint-Simon · NCT07277361 · Data updated 2026-11-12
This project will see if starting or continuing Fabry disease treatment changes quality of life over two and five years in people aged 65 and older.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 65 Years and up |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Groupe Hospitalier Diaconesses Croix Saint-Simon Academic / other |
| Locations | 1 site (Paris, France) |
| Status | Recruiting |
| Started | October 8, 2024 |
| Main results expected | October 14, 2029 |
| Study ends | October 14, 2031 |
| Registry record updated | December 11, 2025 |
| Trial ID | NCT07277361 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People aged 65 or older with confirmed Fabry disease (men with alpha-galactosidase A deficiency or pathogenic GLA variant; women with a pathogenic GLA variant), who can provide the required baseline work-up and give informed consent.
✕Probably not a fit
Those without a confirmed enzymatic or genetic diagnosis, people unable to complete the required tests or follow-up visits, and individuals under guardianship or deprived of liberty are not eligible and therefore will not benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is an observational follow-up of people aged 65 and over with genetically or enzymatically confirmed Fabry disease, comparing those on specific Fabry treatments with those not receiving treatment. Participants will undergo baseline clinical and laboratory tests (ECG, 24h Holter, cardiac ultrasound, creatinine, proteinuria/microalbuminuria) and complete standardized quality-of-life measures at baseline, two years, and five years. No treatment is assigned by the study; care decisions are made by patients and their physicians. The goal is to document real-world quality-of-life trajectories and any associations with ongoing or discontinued therapy in this older population.
Why it matters
Potential benefit: If successful, the results could clarify whether continuing or starting treatment after age 65 improves quality of life and help guide individual care and resource decisions.
How similar studies have gone: While treatments for Fabry disease have shown benefits when started early, there are no large studies specifically showing quality-of-life benefits for people aged 65 and over, so evidence in this age group is limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Men and women aged 65 and over with a diagnosis of Fabry disease with, for men, a proven alpha-galactosidase A deficiency or an identified pathogenic GLA genetic variant, and for women, an identified pathogenic GLA variant. * Minimum work-up available: ECG, 24h holterECG, cardiac ultrasound, creatinemia, proteinuria and/or microalbuminuria. * Have received written and oral information about the protocol and have not expressed any opposition to participating in the study. * Affiliated to a social security scheme or entitled to benefits (excluding AME). Exclusion Criteria: * Inability to understand the information provided, * Under guardianship, curatorship or safeguard of justice, * Under restraint or deprived of liberty by judicial or administrative decision.
Where it's running
-
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France, France Recruiting
Study contacts
- Principal investigator: Wladimir MAUHIN, Doctor — Groupe Hospitalier Diaconesses Croix Saint-Simon
- Study coordinator: Djazia Bouzelmat, Clinical Research Assistant
- Email: dbouzelmat@hopital-dcss.org
- Phone: 01 44 64 30 98
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.