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

NCT07277361 | Recruiting

• 1 other identifier: GHDCSS_Non-RIPH-MI_3_2024
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Aged 65 Years or Older; Alpha Galactosidase A Deficiency; Galactosidase A Gene Mutation; Fabry Disease

Keywords

Fabry disease; Alpha galactosidase A deficiency

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• 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.

  Day 0 and year 2

Study Arms (1)

Participants aged 65 or over with Fabry disease

Eligibility Criteria

• Age: 65 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Older Adult (65+)
• 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.

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Limoges: collaborator
• University Hospital, Marseille: collaborator
• Nantes University Hospital: collaborator
• Necker Hospital, 75015 Paris: 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
• Wladimir MAUHIN, Dr: lead
• University Hospital, Angers: collaborator
• University Hospital, Bordeaux: collaborator
• Centre Hospitalier Universitaire de Caen: collaborator
• University Hospital, Clermont-Ferrand: collaborator
• Centre Hospitalier Universitaire Dijon: collaborator
• University Hospital, Lille: collaborator
• Centre Hospitalier Bretagne Atlantique: collaborator

Study Sites (1)

Groupe Hospitalier Diaconesses Croix Saint-Simon

Paris, France, 75020, France

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Wladimir MAUHIN, Doctor

  Groupe Hospitalier Diaconesses Croix Saint-Simon

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Djazia Bouzelmat, Clinical Research Assistant

CONTACT

01 44 64 30 98; dbouzelmat@hopital-dcss.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Internist

Study Record Dates

• First Submitted: November 20, 2025
• First Posted: December 11, 2025
• Study Start: October 8, 2024
• Primary Completion (Estimated): October 14, 2029
• Study Completion (Estimated): October 14, 2031
• Last Updated: December 11, 2025

Record last verified: 2025-09

Locations

FR (1)