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

Recruiting now

Conditions studied: Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation

In brief

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 facts

Study ID

NCT07277361

Run by

Wladimir MAUHIN, Dr

People needed

100

Starts

2024-10-08

Expected to finish

2031-10-14

Last updated by the study team

2025-12-11

Who can join

Age: 65 and older. Sex: any. Healthy volunteers: not accepted.

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.

Where it is running

• Groupe Hospitalier Diaconesses Croix Saint-Simon — Paris, France, France (enrolling)

Full record on ClinicalTrials.gov

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