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
104 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 about 1 in 10,000 people and causes symptoms like chronic pain, heart and kidney failure, and strokes. It progresses slowly and often leads to irreversible organ damage. Many individuals receive a diagnosis around age 65 or later. The effectiveness of treatments for Fabry disease is debated, especially for those aged 65 and over, and there is limited research on how these treatments affect quality of life in older patients. This study aims to assess the quality of life in people aged 65 and older with Fabry disease, both with and without treatment, over a period of 5 years. This observational study will follow participants aged 65 and over who have Fabry disease, monitoring their quality of life at the start, after 2 years, and after 5 years. The study does not involve new treatments but observes the impact of existing specific treatments compared to no treatment. It also looks for severe clinical or biological events like heart rhythm disorders, strokes, or kidney function decline during the study period. Participants will undergo assessments including ECG, 24-hour Holter ECG, cardiac ultrasound, blood tests for kidney function, and urine tests for protein levels. Researchers will collect information about medical and social risk factors and evaluate changes in quality of life using the EQ-5D-5L score. The study will track participants for 5 years to understand the long-term impact of treatment or no treatment on quality of life and serious health events in older adults with Fabry disease.
CONDITIONS
Brief 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 with a diagnosis of Fabry disease
- Men must have proven alpha-galactosidase A deficiency or identified pathogenic GLA genetic variant
- Women must have an identified pathogenic GLA genetic variant
- Minimum available work-up including ECG, 24h Holter ECG, cardiac ultrasound, creatinine, proteinuria or microalbuminuria
- Have received information about the protocol and have not opposed participation
- Affiliated to a social security scheme or entitled to benefits (excluding AME)
You will not qualify if you...
- Unable to understand the provided information
- 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
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 5 years
Participants with Fabry disease aged 65 and over are observed to evaluate quality of life and clinical events related to the disease, with or without specific treatment.
Visits at baseline, 2 years, and 5 years
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
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
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