ClinicalTrials.gov record NCT07277361
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a prospective observational study that follows people aged 65 and older with Fabry disease to measure quality of life. Participants complete the EQ-5D-5L quality-of-life questionnaire at enrollment, 2 years, and 5 years. The study compares quality-of-life scores between those receiving a specific Fabry treatment and those not receiving it, and records major clinical or biological events.
What it is studying. Whether quality of life over five years differs between people aged 65+ with Fabry disease who are receiving specific treatment and those who are not, and which medical or social factors are associated with poorer quality of life or with severe clinical/biological events.
What the researchers hope to learn. To describe how quality of life changes at baseline, 2 years, and 5 years in people 65+ with Fabry disease; to compare quality-of-life scores between those with and without specific treatment; and to identify medical and social risk factors associated with poor quality of life or the occurrence of severe clinical/biological events.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants complete a quality-of-life questionnaire (EQ-5D-5L) at enrollment (baseline), at 2 years, and at 5 years. The study will collect clinical information and test results such as ECG, 24‑hour Holter ECG, cardiac ultrasound, blood creatinine, and urine protein/microalbumin from records or routine care. Investigators will record any serious clinical or biological events since inclusion (for example: cardiac rhythm disorders requiring treatment or devices, transient or permanent stroke, or a drop in creatinine clearance >30%). Follow-up and data collection occur over a 5-year period.
How the study is structured. Prospective observational cohort study. No treatments are assigned by the study. Participants are followed for 5 years with quality-of-life questionnaires (EQ-5D-5L) at baseline, 2 years, and 5 years; the study also records severe clinical or biological events and collects information to identify associated medical and social risk factors.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Fabry disease
Important dates
- Study start
- Oct 8, 2024
- Primary completion
- Oct 14, 2029 (estimated)
- Study completion
- Oct 14, 2031 (estimated)
- Target enrollment
- 100 participants (estimated)
- Last updated on registry
- Dec 11, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Wladimir MAUHIN, Dr
- Collaborators
- University Hospital, Angers
- University Hospital, Bordeaux
- Centre Hospitalier Bretagne Atlantique
- Centre Hospitalier Universitaire de Caen
- University Hospital, Clermont-Ferrand
- Centre Hospitalier Universitaire Dijon
- University Hospital, Lille
- University Hospital, Limoges
- University Hospital, Marseille
- Nantes University Hospital
- Hôpital Necker-Enfants Malades
- Rennes University Hospital
- University Hospital, Tours
- Hôpital Raymond Poincaré
- University Hospital, Rouen
- Hospital, Vannes
- University Hospital, Brest
- University Hospital, Grenoble
- University Hospital, Strasbourg
- Hospices Civils de Lyon
- Centre Hospitalier de la côte Basque
- University Hospital, Montpellier
- Centre Hospitalier Universitaire de Nice
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Djazia Bouzelmat, Clinical Research Assistant 📞 01 44 64 30 98 ✉ dbouzelmat@hopital-dcss.org
Participating sites (1)
- Groupe Hospitalier Diaconesses Croix Saint-SimonRecruiting
Paris, France, 75020 · France
- Djazia BOUZELMAT, Clinical Research Assistant · 0144643098 · dbouzelmat@hopital-dcss.org
- Wladimir MAUHIN, Doctor
Terms used on this page · explanations by MedicalUpdates.ai
- life expectancy
- Some studies require that, in the investigator's judgement, a participant is likely to live long enough to complete the study period. It is a study requirement, not a prediction about any individual.
- ECG
- A recording of the heart's electrical activity. QTc is one measurement from it; some drugs are avoided if it is prolonged.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- baseline
- Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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