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Recruiting NCT07277361

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

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

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation. Basic parameters: from 65 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Overview

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.

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.

Primary outcome measures

  • 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]
Secondary outcome measures (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%). [Time frame: 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) [Time frame: Year 2, year 5]
  • Evaluation of quality of life at baseline and 2 years. [Time frame: Day 0 and year 2]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

France · 1 center
  • Groupe Hospitalier Diaconesses Croix Saint-Simon — Paris

Identifiers

NCT: NCT07277361 · GHDCSS_Non-RIPH-MI_3_2024

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗