Fabry DiseaseFABRYDIALNCT02843334
Study of the Prevalence of Fabry Disease in French Dialysis Patients
An observational study of Fabry Disease and End Stage Renal Disease, run by Hospices Civils de Lyon at 5 sites in France.
Trial summary
Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency. It causes globotriaosylceramide (GB3) accumulation within blood vessels, tissues and organs. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Fabry Disease, End Stage Renal Disease, Renal Dialysis
- What is being tested?
- Dried blood spot (DBS) sampling
- How many people
- 6,000 participants
- Where
- 5 sitesFrance
- Study dates
- May 2016to May 2017
- 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 to 70 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Population of adult patients undergoing chronic renal dialysis for end stage kidney disease in 5 French areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard)
Who may be able to join
- Woman or men
- Age between 18 to 70 years
- Patient undergoing chronic renal dialysis with a confirmed diagnosis of FD or a diagnosis of nephropathy according to the French renal epidemiology and information network (REIN) registry classification :
- Primitive glomerulonephritis
- Hypertension
- Diabetic nephropathy with non type 1 diabetes
Show all 10Show fewer
- Vascular nephropathy
- Pyelonephritis
- Unknown or other
- Informed consent signed
Who cannot join
- IgA nephropathy confirmed by renal biopsy
- Diabetic nephropathy with type 1 diabetes
- Autosomal dominant polycystic kidney disease
- Law-protected patient
- Patient who doesn't belong to the national social security system, or similar system
- Pregnant or lactating woman
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
France5 sites, 5 recruiting
- Recruiting
CHU d'Amiens, Site Sud, Service de néphrologie, D408
Amiens, Nord Picardie, 80054
Gabriel CHOUKROUN, Pr, (0)322 455 860 ext. +33, choukroun.gabriel@chu-amiens.fr
- Recruiting
Hôpital Pellegrin Tripode, Service de néphrologie-Dialyse, place Amélie Rabat Léon
Bordeaux, Aquitaine, 33000
Valérie De PRECIGOUT, MD, (0)556 795 831 ext. +33, valerie.deprecigout@chu-bordeaux.fr
- Recruiting
Hospices Civils de Lyon, Hôpital E Herriot, Service de néphrologie, 5 place d'Arsonval
Lyon, Rhones Alpes, 69437
Laurent JUILLARD, Pr, (0)472 110 159 ext. +33, Laurent.juillard@univ-lyon1.fr
Laure GUITTARD, (0)472 112 801 ext. +33, Laure.guittard@chu-lyon.fr
- Recruiting
Hôpital Universitaire Carémeau, Service de Néphrologie, Place du Pr R. Debré
Nîmes, Gard, 30029
Olivier MORANNE, Pr, (0)466 683 256 ext. +33, olivier.moranne@chu-nimes.fr
- Recruiting
Hôpital Necker, APHP Paris, Service de néphrologie-dialyse, 149 rue de Sèvres
Paris, Île-de-France Region, 75015
Bertrand KNEBELMANN, Pr, (0)144 495 241 ext. +33, bertrand.knebelmann@nck.aphp.fr
About this study
Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency. It causes globotriaosylceramide (GB3) accumulation within blood vessels, tissues and organs. This accumulation leads to multisystemic deficiency, such as progressive kidney insufficiency. Due to its low prevalence and non-specific symptoms, FD is under-diagnosed. Its estimated incidence is ranged from 1/40,000 to 1/120,000 live births. A review of the international literature suggests a higher prevalence among dialysis patients. Its diagnosis could lead to an enzyme replacement therapy, in order to avoid the occurrence or aggravation of other organs irreversible lesions, and to enhance the familial screening.
We aim to conduct a multicentric cross-sectional prevalence study in 5 areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard), involving biologic collection and genetic diagnosis test. Our objective is to measure the prevalence of FD among dialysis patients. Eligible patients will be included after signing the informed consent.
Read more
In the five participating areas, all of the dialysis centers will be asked for involvement. Nominative data of the French renal epidemiology and information network (REIN) registry will enable first patients screening for eligibility among prevalent dialysis patients. If needed (insufficient or absent data in the REIN registry), data will be completed with medical files.
A blood drop will be collected during a hemodialysis session (or the monthly test for peritoneal dialysis treated patients) and deposited on an anonymized blotting paper. For the diagnosis of FD, men will have a measure of the alpha-galactosidase activity, whereas screening in women will be established on the association of alpha-galactosidase activity and lyso-GB3 analysis. If results are compatible with FD, genetic mutation will be search in order to confirm the diagnosis for women, and, for all, to offer familial testing. Results will be transmitted to the nephrologist within the next 2 to 9 weeks. Patients diagnosed with FD will be managed in accordance with the guidelines of the French National Authority for Health (F.N.A.H.).
- Conditions
- Fabry Disease, End Stage Renal Disease, Renal Dialysis
- Being tested
- Dried blood spot (DBS) sampling
- Keywords
- Fabry disease, End Stage Renal Disease, chronic dialysis, alpha galactosidase A, Lyso-GB3, GLA mutation, Prevalence
- Medical subject headings
- Fabry Disease, Kidney Failure, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Dried blood spot (DBS) samplingBiological
DBS be collected during a hemodialysis session and deposited on an anonymized blotting paper. Laboratory ARCHIMED Life Science GmbH, based in Austria will perform all the biological analysis. For the diagnosis, men will have a measure of the alpha-galactosidase activity level, whereas screening in women will be established on the association of alpha-galactosidase activity and lyso-GB3 analyses. If results are compatible, genetic mutation will be searches in order to confirm the diagnosis for women.
| Study group | Role | What they receive |
|---|---|---|
| Population of adult patients undergoing chronic renal dialysis | Population of adult patients undergoing chronic renal dialysis for end stage kidney disease in 5 French areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard) Receives: Biological: Dried blood spot (DBS) sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of Fabry disease
Analysis for the diagnostic of FD will be performed on blood drops:
- For men : alpha galactosidase A enzyme activity (positive test if < 1,2µmol/L/h)
- For women : alpha galactosidase A enzyme activity (positive test if < 1,2µmol/L/h) and lyso-GB3 (positive test if > 6 ng/mL) analysis. If results are compatible, GLA mutation will be confirmed by genotyping.
Measured: during a hemodialysis session (Day 1)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jul 2016 (estimated)
- Study startMay 2016
- Primary completionMay 2017 (estimated)
- Study completionMay 2017 (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.
- More trials run by Hospices Civils de LyonThe 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
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 6,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Laurent JUILLARD, Pr, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02843334
- Sponsor's protocol ID
- 69HCL16_0271
- Acronym
- FABRYDIAL
- Status last verified
- Jul 2016
- First submitted
- 21 Jul 2016
- Last updated
- 25 Jul 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Prevalence of Fabry Disease in French Dialysis Patients
- ClinicalTrials.gov ID
- NCT02843334
- Acronym / sponsor ID
- FABRYDIAL / 69HCL16_0271
- Conditions
- Fabry Disease, End Stage Renal Disease, Renal Dialysis
- Keywords
- Fabry disease, End Stage Renal Disease, chronic dialysis, alpha galactosidase A, Lyso-GB3, GLA mutation, Prevalence
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 6,000 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- May 2016
- Primary completion
- May 2017 (estimated)
- Study completion
- May 2017 (estimated)
- First posted
- 25 Jul 2016 (estimated)
- 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 (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency. It causes globotriaosylceramide (GB3) accumulation within blood vessels, tissues and organs. This accumulation leads to multisystemic deficiency, such as progressive kidney insufficiency. Due to its low prevalence and non-specific symptoms, FD is under-diagnosed. Its estimated incidence is ranged from 1/40,000 to 1/120,000 live births. A review of the international literature suggests a higher prevalence among dialysis patients. Its diagnosis could lead to an enzyme replacement therapy, in order to avoid the occurrence or aggravation of other organs irreversible lesions, and to enhance the familial screening.
We aim to conduct a multicentric cross-sectional prevalence study in 5 areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard), involving biologic collection and genetic diagnosis test. Our objective is to measure the prevalence of FD among dialysis patients. Eligible patients will be included after signing the informed consent.
In the five participating areas, all of the dialysis centers will be asked for involvement. Nominative data of the French renal epidemiology and information network (REIN) registry will enable first patients screening for eligibility among prevalent dialysis patients. If needed (insufficient or absent data in the REIN registry), data will be completed with medical files.
A blood drop will be collected during a hemodialysis session (or the monthly test for peritoneal dialysis treated patients) and deposited on an anonymized blotting paper. For the diagnosis of FD, men will have a measure of the alpha-galactosidase activity, whereas screening in women will be established on the association of alpha-galactosidase activity and lyso-GB3 analysis. If results are compatible with FD, genetic mutation will be search in order to confirm the diagnosis for women, and, for all, to offer familial testing. Results will be transmitted to the nephrologist within the next 2 to 9 weeks. Patients diagnosed with FD will be managed in accordance with the guidelines of the French National Authority for Health (F.N.A.H.).
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Population of adult patients undergoing chronic renal dialysis | – | Biological: Dried blood spot (DBS) samplingPopulation of adult patients undergoing chronic renal dialysis for end stage kidney disease in 5 French areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard) |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Population of adult patients undergoing chronic renal dialysis for end stage kidney disease in 5 French areas (Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard)
Key inclusion criteria (10 listed)
- Woman or men
- Age between 18 to 70 years
- Patient undergoing chronic renal dialysis with a confirmed diagnosis of FD or a diagnosis of nephropathy according to the French renal epidemiology and information network (REIN) registry classification :
- Primitive glomerulonephritis
- Hypertension
Key exclusion criteria (6 listed)
- IgA nephropathy confirmed by renal biopsy
- Diabetic nephropathy with type 1 diabetes
- Autosomal dominant polycystic kidney disease
- Law-protected patient
- Patient who doesn't belong to the national social security system, or similar system
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 |
|---|---|---|
| Dried blood spot (DBS) samplingDBS be collected during a hemodialysis session and deposited on an anonymized blotting paper. Laboratory ARCHIMED Life Science GmbH, based in Austria will perform all the biological analysis. For the diagnosis, men will have a measure of the alpha-galactosidase activity level, whereas screening in women will be established on the association of alpha-galactosidase activity and lyso-GB3 analyses. If results are compatible, genetic mutation will be searches in order to confirm the diagnosis for women. | Biological | Population of adult patients undergoing chronic renal dialysis |
Primary outcome
Prevalence of Fabry disease
Time frame: during a hemodialysis session (Day 1)
Analysis for the diagnostic of FD will be performed on blood drops: * For men : alpha galactosidase A enzyme activity (positive test if < 1,2µmol/L/h) * For women : alpha galactosidase A enzyme activity (positive test if < 1,2µmol/L/h) and lyso-GB3 (positive test if > 6 ng/mL) analysis. If results are compatible, GLA mutation will be confirmed by genotyping.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Jul 2016.
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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.
Laurent JUILLARD, Pr principal investigator
Hospices Civils de Lyon
5 sites 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 End Stage Renal Disease, run by Hospices Civils de Lyon at 5 sites 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 10 inclusion and 6 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: status not confirmed, as of the sponsor's last update on 25 Jul 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Laurent JUILLARD, Pr ((0)472 110 159 ext. +33, Laurent.juillard@univ-lyon1.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of Fabry disease (time frame: during a hemodialysis session (Day 1)). 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 25 Jul 2016.