Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment (FABRY65)

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.

Study Overview

• Status: Recruiting
• Conditions: Fabry Disease; Alpha Galactosidase A Deficiency; Aged 65 Years or Older; Galactosidase A Gene Mutation

Detailed Description

Fabry disease is an X-linked genetic lysosomal disorder with an estimated prevalence of 1 in 10,000. It affects quality of life and life expectancy, through, among other things, chronic pain and the development of heart and kidney failure and stroke. An increasing number of people are being diagnosed at around the age of 65 or even later. Fabry disease develops slowly and progressively, causing irreversible organ damage. While the efficacy of Fabry disease treatments is debated, it is expected that they will be effective in the long term, provided therapy is initiated early.

Currently, there are no specific studies evaluating the efficacy of these treatments in people aged 65 and over. These treatments are very expensive (averaging €200k per individual treated per year) and sometimes cumbersome (involving twice-monthly infusions lasting several hours). There are also no studies on the quality of life of the people aged 65 and over with Fabry disease.

Furthermore, there is no clear evidence of any benefit from introducing or continuing treatment beyond the age of 65.

Our aim is to evaluate the quality of life of participants with Fabry disease aged 65 and over, both with and without treatment, at baseline and at 2 and 5 year intervals.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Djazia Bouzelmat, Clinical Research Assistant; Phone Number: 01 44 64 30 98; Email: dbouzelmat@hopital-dcss.org

Study Locations

• France
  • France
    • Paris, France, France, 75020
      • Recruiting
      • Groupe Hospitalier Diaconesses Croix Saint-Simon
      • Principal Investigator: Wladimir MAUHIN, Doctor
      • Contact: Djazia BOUZELMAT, Clinical Research Assistant; Phone Number: 0144643098; Email: dbouzelmat@hopital-dcss.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

• 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).

Exclusion Criteria:

• Inability to understand the information provided,
• Under guardianship, curatorship or safeguard of justice,
• Under restraint or deprived of liberty by judicial or administrative decision.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Participants aged 65 or over with Fabry disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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%).		Year 2 and year 5
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)		Year 2, year 5
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.	Day 0 and year 2

Collaborators and Investigators

• Sponsor: Wladimir MAUHIN, Dr
• Collaborators: Hospices Civils de Lyon; University Hospital, Angers; University Hospital, Rouen; Centre Hospitalier Universitaire Dijon; University Hospital, Montpellier; University Hospital, Bordeaux; University Hospital, Clermont-Ferrand; Centre Hospitalier de la côte Basque; Centre Hospitalier Universitaire de Nice; University Hospital, Limoges; University Hospital, Brest; University Hospital, Grenoble; Rennes University Hospital; University Hospital, Lille; Nantes University Hospital; University Hospital, Tours; University Hospital, Marseille; University Hospital, Strasbourg; Hôpital Raymond Poincaré; Centre Hospitalier Universitaire de Caen; Hospital, Vannes; Centre Hospitalier Bretagne Atlantique; Necker Hospital, 75015 Paris
• Investigators: Principal Investigator: Wladimir MAUHIN, Doctor, Groupe Hospitalier Diaconesses Croix Saint-Simon

Study record dates

Study Major Dates

• Study Start (Actual): October 8, 2024
• Primary Completion (Estimated): October 14, 2029
• Study Completion (Estimated): October 14, 2031

Study Registration Dates

• First Submitted: November 20, 2025
• First Submitted That Met QC Criteria: December 9, 2025
• First Posted (Actual): December 11, 2025

Study Record Updates

• Last Update Posted (Actual): December 11, 2025
• Last Update Submitted That Met QC Criteria: December 9, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Fabry disease; Alpha galactosidase A deficiency
• Additional Relevant MeSH Terms: Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Genetic Diseases, X-Linked; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Fabry Disease
• Other Study ID Numbers: GHDCSS_Non-RIPH-MI_3_2024

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No