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NCT Number: NCT07277361

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.

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Key information

Conditions

Fabry Disease Aged 65 Years or Older Alpha Galactosidase A Deficiency Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Galactosidase A Gene Mutation Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

65 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Groupe Hospitalier Diaconesses Croix Saint-Simon

Paris, France, 75020

Location status: Recruiting

Location contact

Djazia BOUZELMAT, Clinical Research Assistant

CONTACT

[email protected]

0144643098

Wladimir MAUHIN, Doctor

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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.

    Time frame: 5 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, 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.

Secondary outcomes

  1. 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%).

    Time frame: Year 2 and year 5

  2. 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)

    Time frame: Year 2, year 5

  3. Evaluation of quality of life at baseline and 2 years.

    Time frame: Day 0 and year 2

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Djazia Bouzelmat, Clinical Research Assistant

CONTACT

[email protected]

01 44 64 30 98

Sponsors and collaborators

Lead sponsor

Wladimir MAUHIN, Dr

Other

Collaborators

  • Centre Hospitalier Bretagne Atlantique
  • Centre Hospitalier Universitaire Dijon
  • Centre Hospitalier Universitaire de Caen
  • Centre Hospitalier Universitaire de Nice
  • Centre Hospitalier de la côte Basque
  • Hospices Civils de Lyon
  • Hospital, Vannes
  • Hôpital Necker-Enfants Malades
  • Hôpital Raymond Poincaré
  • Nantes University Hospital
  • Rennes University Hospital
  • University Hospital, Angers
  • University Hospital, Bordeaux
  • University Hospital, Brest
  • University Hospital, Clermont-Ferrand
  • University Hospital, Grenoble
  • University Hospital, Lille
  • University Hospital, Limoges
  • University Hospital, Marseille
  • University Hospital, Montpellier
  • University Hospital, Rouen
  • University Hospital, Strasbourg
  • University Hospital, Tours

Registry information

Acronym: FABRY65

Important dates

Study start
2024
Primary completion
2029
Study completion
2031
First posted
Dec 11, 2025
Registry last updated
Dec 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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