NCT07277361Recruiting
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Source: ClinicalTrials.gov · Last updated 11 Dec 2025
Brief summary (registry, in English)
Fabry disease is a rare genetic disorder affecting 1 in 10,000 individuals, leading to complications such as chronic pain, heart and kidney failure, and strokes, ultimately impacting life expectancy. People with this disease are increasingly being diagnosed later in life, around the age of 65, as the condition progresses slowly with irreversible organ damage. The effectiveness of treatments for Fabry disease remains controversial, but early initiation is recommended for long-term benefits. Despite the high cost and inconvenience of treatments, there is limited research on their efficacy in older people or on the quality of life for those aged 65 and over with Fabry disease. This study aims to assess the quality of life in this age group both with and without treatment over a period of 5 years to determine the benefits of treatment beyond the age of 65.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 20 Nov 2025
- Start date
- 8 Oct 2024
- Primary completion date
- 14 Oct 2029
- Lead sponsor
- Wladimir MAUHIN, Dr
- Diseases
- Fabry disease
- NCT number
- NCT07277361
What you commit to
- Study type: Observational
- Planned participants: 100
- From 8 Oct 2024 to the primary completion date, 14 Oct 2029
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Inability to understand the information provided,
- Under guardianship, curatorship or safeguard of justice,
- Under restraint or deprived of liberty by judicial or administrative decision.
Who the study is looking for
- 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).
Age in the registry: 65 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Groupe Hospitalier Diaconesses Croix Saint-Simon Coordinator of this site? Confirm its status | Paris | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.