Actively Recruiting
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Led by Wladimir MAUHIN, Dr · Updated on 2025-12-11
100
Participants Needed
1
Research Sites
366 weeks
Total Duration
On this page
Sponsors
W
Wladimir MAUHIN, Dr
Lead Sponsor
U
University Hospital, Angers
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Men and women aged 65 and over diagnosed with Fabry disease
- For men: proven alpha-galactosidase A deficiency or identified pathogenic GLA genetic variant
- For women: identified pathogenic GLA genetic variant
- Available minimum work-up including ECG, 24h holter ECG, cardiac ultrasound, creatinemia, proteinuria and/or microalbuminuria
- Have received written and oral information about the study and have not opposed participation
- Affiliated with a social security scheme or entitled to benefits (excluding AME)
You will not qualify if you...
- Inability to understand the information provided about the study
- Under guardianship, curatorship, or safeguard of justice
- Under restraint or deprived of liberty by judicial or administrative decision
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France, France, 75020
Actively Recruiting
Research Team
D
Djazia Bouzelmat, Clinical Research Assistant
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here