Fabry DiseaseFABRY65NCT07277361
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
An observational study of Fabry Disease and Aged 65 Years or Older, run by Wladimir MAUHIN, Dr at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 65 years and older
- Conditions the study is for
- Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- 8 Oct 2024to 14 Oct 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 65 years and older
- All sexes
- No healthy volunteers
- Older adult
Study population: People, 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.
Who may be able to join
- 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).
Who cannot join
- Inability to understand the information provided,
- Under guardianship, curatorship or safeguard of justice,
- Under restraint or deprived of liberty by judicial or administrative decision.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, France, 75020
Djazia BOUZELMAT, Clinical Research Assistant, 0144643098, dbouzelmat@hopital-dcss.org
Wladimir MAUHIN, Doctor
About this study
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.
Read the 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.
- Conditions
- Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation
- Keywords
- Fabry disease, Alpha galactosidase A deficiency
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants aged 65 or over with Fabry disease | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
People diagnosed with Fabry disease, will be evaluated for their quality of life, using a questionnaire based on the European Quality Of Life 5 Dimensions and 5 Lines (EQ-5D-5L) score, at baseline, 2 years and 5 years.
The EQ-5D-5L score is an European quality of life scale. It is presented as follows: a first part with questions known as the 'EQ-5D descriptive system', supplemented by a visual analogue scale known as the 'EQ-5D VAS'.
For the first part, the answers are given on 5-point scales (1: no problem; 2: slight problems; 3: moderate problems; 4: severe problems; 5: extreme problems or total incapacity).
For the second part, it consists of a 20 cm line, graduated from 0 to 100, on which the participant must indicate how he or she rates his or her current state of health, 0 being the worst possible state and 100 the best.
Measured: 5 years
Secondary outcomes (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%).
Measured: 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)
Measured: Year 2, year 5
Evaluation of quality of life at baseline and 2 years.
People diagnosed with Fabry disease, will be evaluated for their quality of life, using a questionnaire based on the European Quality Of Life 5 Dimensions and 5 Lines (EQ-5D-5L) score, at baseline and 2 years. The EQ-5D-5L score is an European quality of life scale. It is presented as follows: a first part with questions known as the 'EQ-5D descriptive system', supplemented by a visual analogue scale known as the 'EQ-5D VAS'.
For the first part, the answers are given on 5-point scales (1: no problem; 2: slight problems; 3: moderate problems; 4: severe problems; 5: extreme problems or total incapacity).
For the second part, it consists of a 20 cm line, graduated from 0 to 100, on which the participant must indicate how he or she rates his or her current state of health, 0 being the worst possible state and 100 the best.
Measured: Day 0 and year 2
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Dec 2025
- Study start8 Oct 2024
- Primary completion14 Oct 2029 (estimated)
- Study completion14 Oct 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Wladimir MAUHIN, Dr
- Sponsor type
- University, hospital or other
- 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
- Responsible party
- Sponsor-investigator, Wladimir MAUHIN, Dr, Groupe Hospitalier Diaconesses Croix Saint-Simon
- Investigators
- Wladimir MAUHIN, Doctor, Principal investigator, Groupe Hospitalier Diaconesses Croix Saint-Simon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07277361
- Sponsor's protocol ID
- GHDCSS_Non-RIPH-MI_3_2024
- Acronym
- FABRY65
- Status last verified
- Sep 2025
- First submitted
- 20 Nov 2025
- Last updated
- 11 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 11 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
- ClinicalTrials.gov ID
- NCT07277361
- Acronym / sponsor ID
- FABRY65 / GHDCSS_Non-RIPH-MI_3_2024
- Conditions
- Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation
- Keywords
- Fabry disease, Alpha galactosidase A deficiency
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Wladimir MAUHIN, DrUniversity, hospital or other
- 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
- Study start
- 8 Oct 2024 (actual)
- Primary completion
- 14 Oct 2029 (estimated)
- Study completion
- 14 Oct 2031 (estimated)
- First posted
- 11 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants aged 65 or over with Fabry disease | – | – |
Who may qualify
- Ages
- 65 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Older adult
- Study population
- People, 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.
Key inclusion criteria (4 listed)
- 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).
Key exclusion criteria (3 listed)
- Inability to understand the information provided,
- Under guardianship, curatorship or safeguard of justice,
- Under restraint or deprived of liberty by judicial or administrative decision.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
People diagnosed with Fabry disease, will be evaluated for their quality of life, using a questionnaire based on the European Quality Of Life 5 Dimensions and 5 Lines (EQ-5D-5L) score, at baseline, 2 years and 5 years. The EQ-5D-5L score is an European quality of life scale. It is presented as follows: a first part with questions known as the 'EQ-5D descriptive system', supplemented by a visual analogue scale known as the 'EQ-5D VAS'. For the first part, the answers are given on 5-point scales (1: no problem; 2: slight problems; 3: moderate problems; 4: severe problems; 5: extreme problems or total incapacity). For the second part, it consists of a 20 cm line, graduated from 0 to 100, on which the participant must indicate how he or she rates his or her current state of health, 0 being the worst possible state and 100 the best.
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Dec 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Wladimir MAUHIN, Doctor principal investigator
Groupe Hospitalier Diaconesses Croix Saint-Simon
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease and Aged 65 Years or Older, run by Wladimir MAUHIN, Dr at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Djazia Bouzelmat, Clinical Research Assistant (01 44 64 30 98, dbouzelmat@hopital-dcss.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Dec 2025.