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

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.

NCT Number	NCT07277361
Lead Sponsor	Wladimir MAUHIN, Dr Collaborators: University Hospital, Angers, University Hospital, Bordeaux, Centre Hospitalier Bretagne Atlantique, Centre Hospitalier Universitaire de Caen, University Hospital, Clermont-Ferrand, Centre Hospitalier Universitaire Dijon, University Hospital, Lille, University Hospital, Limoges, University Hospital, Marseille, Nantes University Hospital, Hôpital Necker-Enfants Malades, Rennes University Hospital, University Hospital, Tours, Hôpital Raymond Poincaré, University Hospital, Rouen, Hospital, Vannes, University Hospital, Brest, University Hospital, Grenoble, University Hospital, Strasbourg, Hospices Civils de Lyon, Centre Hospitalier de la côte Basque, University Hospital, Montpellier, Centre Hospitalier Universitaire de Nice
Conditions	Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation
Enrollment	100 participants
Start Date	2024-10-08
Primary Completion	2029-10-14 (estimated)
Study Completion	2031-10-14 (estimated)
Updated on ClinicalTrials.gov	2025-12-11