Fabry DiseaseDEFYTNCT03886714
Screening for Fabry Disease in Renal Transplantation
An observational study of Fabry Disease and Nephropathy, run by University Hospital, Montpellier at 1 site in France.
Trial summary
Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease, Nephropathy
- What is being tested?
- Screening for Fabry disease and Screen for α-galactosidase mutation
- How many people
- 592 participants
- Where
- 1 siteFrance
- Study dates
- 25 Mar 2019to 10 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients identified from a database, who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause, and still followed at the Montpellier University Hospital.
Who may be able to join
- Nephropathy of indeterminate cause, or secondary FSH or diabetic nephropathy
- Patients with kidney transplanted
- Patients still followed at the Montpellier University Hospital
- Obtaining written informed consent
- Age > 18 years old, no upper age limit
Who cannot join
- N/A
Trial locations and contacts
1 site in 1 country.
About this study
Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause.
Read the detailed description
Exploration whether Fabry disease cases can be identified among patients who are followed at the Montpellier University Hospital after renal transplantation, with indeterminate cause of renal failure or diabetic nephropathy (due to its high frequency) or secondary focal segmental hyalinosis (FSH).
At the population level, the identification of cases at the Montpellier centre could then justify to expand this screening to other French centres. The goal is to contribute to adapt current guidelines of renal failure assessment, by systematically including Fabry among the diagnostic tests. Whether all patients with renal failure are concerned, or only those with indeterminate cause, is an important question this study will address.
- Conditions
- Fabry Disease, Nephropathy
- Being tested
- Screening for Fabry disease, Screen for α-galactosidase mutation
- Keywords
- Fabry disease, Renal transplantation, Diabetic nephropathy, Focal Segmental Hyalinosis (FSH), Undetermined nephropathy
- Medical subject headings
- Fabry Disease, Kidney Diseases, Diabetic Nephropathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Screening for Fabry diseaseDiagnostic test
Screening for the α-galactosidase (GAL) enzyme activity (men + women) and plasma Lyso globotriaosylsphingosine (GL3, women) for the diagnosis of Fabry disease.
Screen for α-galactosidase mutationDiagnostic test
If necessary (positive for GAL), genetic confirmation tests for Fabry disease will be performed (men + women).
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Patients with Positive screen result
The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3)
Measured: Inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2019
- Study start25 Mar 2019
- Primary completion31 Dec 2024
- Study completion10 Apr 2025
Why it stopped: Low recreuitement numbers and end of grant.
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.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 592 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03886714
- Sponsor's protocol ID
- RECHMPL18_0015
- Other IDs
- UF 7561
- Acronym
- DEFYT
- Status last verified
- May 2025
- First submitted
- 20 Mar 2019
- Last updated
- 16 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening for Fabry Disease in Renal Transplantation
- ClinicalTrials.gov ID
- NCT03886714
- Acronym / sponsor ID
- DEFYT / RECHMPL18_0015
- Conditions
- Fabry Disease, Nephropathy
- Keywords
- Fabry disease, Renal transplantation, Diabetic nephropathy, Focal Segmental Hyalinosis (FSH), Undetermined nephropathy
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Low recreuitement numbers and end of grant.
- Enrolment
- 592 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 25 Mar 2019 (actual)
- Primary completion
- 31 Dec 2024 (actual)
- Study completion
- 10 Apr 2025 (actual)
- First posted
- 22 Mar 2019 (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.
Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause.
Detailed description
Exploration whether Fabry disease cases can be identified among patients who are followed at the Montpellier University Hospital after renal transplantation, with indeterminate cause of renal failure or diabetic nephropathy (due to its high frequency) or secondary focal segmental hyalinosis (FSH).
At the population level, the identification of cases at the Montpellier centre could then justify to expand this screening to other French centres. The goal is to contribute to adapt current guidelines of renal failure assessment, by systematically including Fabry among the diagnostic tests. Whether all patients with renal failure are concerned, or only those with indeterminate cause, is an important question this study will address.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients identified from a database, who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause, and still followed at the Montpellier University Hospital.
Key inclusion criteria (5 listed)
- Nephropathy of indeterminate cause, or secondary FSH or diabetic nephropathy
- Patients with kidney transplanted
- Patients still followed at the Montpellier University Hospital
- Obtaining written informed consent
- Age > 18 years old, no upper age limit
Key exclusion criteria (1 listed)
- N/A
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Screening for Fabry diseaseScreening for the α-galactosidase (GAL) enzyme activity (men + women) and plasma Lyso globotriaosylsphingosine (GL3, women) for the diagnosis of Fabry disease. | Diagnostic test | – |
| Screen for α-galactosidase mutationIf necessary (positive for GAL), genetic confirmation tests for Fabry disease will be performed (men + women). | Diagnostic test | – |
Primary outcome
Number of Patients with Positive screen result
Time frame: Inclusion visit
The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3)
Results and safety
The study was stopped early (reason given: Low recreuitement numbers and end of grant.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 May 2025.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 Nephropathy, run by University Hospital, Montpellier 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 5 inclusion and 1 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: stopped early, as of the sponsor's last update on 16 May 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?
The study was stopped early (reason given: Low recreuitement numbers and end of grant.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Patients with Positive screen result (time frame: Inclusion visit). 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 16 May 2025.