Quality of Life Study in People Aged 65 and Older With Fabry Disease Receiving or Not Receiving Specific Treatments

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.

Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment