Quality of life in people aged 65 and over with Fabry disease

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for men and women aged 65 and over who have Fabry disease. It studies their quality of life with and without specific treatment.

Age

65 years and over

Sex

Men and women

Biomarker or test result

Men: proven alpha-galactosidase A deficiency or a pathogenic GLA gene variant. Women: a pathogenic GLA gene variant.

Main reasons for not taking part

• Cannot understand the information given
• Under guardianship, curatorship or safeguard of justice
• Under restraint or deprived of liberty by a court or official decision
• Not affiliated to a social security scheme or entitled to benefits (excluding AME)
• Minimum work-up not available (ECG, 24h Holter ECG, cardiac ultrasound, creatinine, proteinuria and/or microalbuminuria)

The registry criteria, word for word

What the trial wants to find out

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.

The group in the trial

• Participants aged 65 or over with Fabry disease