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.
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).
Inability to understand the information provided,
Under guardianship, curatorship or safeguard of justice,
Under restraint or deprived of liberty by judicial or administrative decision.
People, 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.
Cohort
Prospective
Not listed
Evolution of quality of life assessed by the EQ-5D-5L score according to the existence or not of a specific treatment at 5 years in Fabry patients aged 65 and over.
People diagnosed with Fabry disease, will be evaluated for their quality of life, using a questionnaire based on the European Quality Of Life 5 Dimensions and 5 Lines (EQ-5D-5L) score, at baseline, 2 years and 5 years. The EQ-5D-5L score is an European quality of life scale. It is presented as follows: a first part with questions known as the 'EQ-5D descriptive system', supplemented by a visual analogue scale known as the 'EQ-5D VAS'. For the first part, the answers are given on 5-point scales (1: no problem; 2: slight problems; 3: moderate problems; 4: severe problems; 5: extreme problems or total incapacity). For the second part, it consists of a 20 cm line, graduated from 0 to 100, on which the participant must indicate how he or she rates his or her current state of health, 0 being the worst possible state and 100 the best.
Identify the occurrence of a severe clinical or biological event since inclusion (cardiac rhythm disorder requiring the introduction of treatment or equipment, occurrence of a transient or permanent stroke, deterioration in creatinine clearance > 30%).
Identify the medical and social risk factors, whether related to the disease or not, associated with the lack of improvement in quality of life or the occurrence of an event (correlation and cluster studies)
Evaluation of quality of life at baseline and 2 years.
People diagnosed with Fabry disease, will be evaluated for their quality of life, using a questionnaire based on the European Quality Of Life 5 Dimensions and 5 Lines (EQ-5D-5L) score, at baseline and 2 years. The EQ-5D-5L score is an European quality of life scale. It is presented as follows: a first part with questions known as the 'EQ-5D descriptive system', supplemented by a visual analogue scale known as the 'EQ-5D VAS'. For the first part, the answers are given on 5-point scales (1: no problem; 2: slight problems; 3: moderate problems; 4: severe problems; 5: extreme problems or total incapacity). For the second part, it consists of a 20 cm line, graduated from 0 to 100, on which the participant must indicate how he or she rates his or her current state of health, 0 being the worst possible state and 100 the best.
Click on the lead sponsor to view all of their trials.
Wladimir MAUHIN, Dr
Lead sponsor
Groupe Hospitalier Diaconesses Croix Saint-Simon
Sponsor institution
University Hospital, Angers
Collaborator
University Hospital, Bordeaux
Collaborator
Centre Hospitalier Bretagne Atlantique
Collaborator
Centre Hospitalier Universitaire de Caen
Collaborator
University Hospital, Clermont-Ferrand
Collaborator
Centre Hospitalier Universitaire Dijon
Collaborator
University Hospital, Lille
Collaborator
University Hospital, Limoges
Collaborator
University Hospital, Marseille
Collaborator
Nantes University Hospital
Collaborator
Hôpital Necker-Enfants Malades
Collaborator
Rennes University Hospital
Collaborator
University Hospital, Tours
Collaborator
Hôpital Raymond Poincaré
Collaborator
University Hospital, Rouen
Collaborator
Hospital, Vannes
Collaborator
University Hospital, Brest
Collaborator
University Hospital, Grenoble
Collaborator
University Hospital, Strasbourg
Collaborator
Hospices Civils de Lyon
Collaborator
Centre Hospitalier de la côte Basque
Collaborator
University Hospital, Montpellier
Collaborator
Centre Hospitalier Universitaire de Nice
Collaborator
