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

Sponsor
Wladimir MAUHIN, Dr
Study ID
NCT07277361
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
65 Years - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Oct 8, 2024
Status verified
Sep 2025
Primary completion
Oct 14, 2029
Completion
Oct 14, 2031

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: Participants aged 65 or over with Fabry disease

Primary Outcome Measure

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 ]

Central Contacts

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