Fabry's DiseaseDOUFABISNCT02450604
Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
A study testing Diagnosis of Fabry disease in people with Fabry's Disease and Chronic Pain, run by University Hospital, Bordeaux at 21 sites in France.
Trial summary
Fabry disease is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection of one of these organs. Read more about this study
- Who is it for?
- Ages 6 to 80 years
- Conditions the study is for
- Fabry's Disease, Chronic Pain
- What is being tested?
- Diagnosis of Fabry disease
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 776 participants
- Where
- 21 sitesFrance
- Study dates
- 5 Mar 2015to 15 Dec 2021
- Phase
- Interventional
- 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 6 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- patients of both sex,
- aged from 6 to 80,
- with chronic pains of unknown aetiology including: acroparesthesias, and/or pain crises evolving more than 3 months, continued neuropathic evolving more than 3 months, and/or multiple pains evolving more than 3 months and/or recurrent abdominal crises of pain who come for a clinical visit in the pain Centres of France.
Who cannot join
- chronic pain of known cause
Trial locations and contacts
21 sites in 1 country.
21 sites in 1 country
France21 sites
Centre Douleurs Chroniques, CH de la Côte Basque
Bayonne, 64109
Centre Douleurs Chroniques, CHU de Bordeaux
Bordeaux, 33076
Service de médecine Polyvalent, CH de La Dracénie
Draguignan, 83007
CeRCa, Unité de Neuromyologie, CHU de Fort de France
FORT de France, Martinique, 97261
Anesthésie, Hôpital Raymond Poincaré
Garches, 92380
Centre de la douleur de l'Adulte et de l'Enfant, CHU de Grenoble
Grenoble, 38043
Médecine - Consultations Douleur, CH de La Réole
La Réole, 33192
Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis
La Rochelle, 17019
Pole enfant - CETD Salengro, CHRU de Lille
Lille, 59037
Pôle Anesthésie Consultation douleur, CHRU de Lille
Lille, 59037
CETD La Timone, AP-HM
Marseille, 13385
Centre d'Analgésie, CHRU Lapeyronie
Montpellier, 34295
Centre d'Evaluation et de Traitement de la Douleur, CHU de Nîmes
Nîmes, 30029
Service de Médecine de la Douleur et de Médecine Palliative, Hôpital Lariboisière-APHP
Paris, 75475
Service de lutte contre la douleur et d'Anesthésie, CH Périgueux
Périgueux, 24 019
Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud
Pierre-Bénite, 69495
Centre Antidouleurs, CHU de Reims
Reims, 51092
Cs douleur chronique GHSR, CHU Sud Réunion
Saint-Pierre, La Réunion, 97448
Centre de la Douleur, CHRU de Strasbourg
Strasbourg, 67091
Centre d'Analgésie Pédiatrique, Equipe Régionale Ressource en Soins Palliatifs-Equipe " Enfant-Do ", CHU de Toulouse
Toulouse, 31059
Centre d'évaluation et de traitement de la Douleur, Hôpital Pierre-Paul Ricquet
Toulouse, 31059
About this study
Fabry disease is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection of one of these organs. Acroparesthesias and chronic crises of pain of different origins are reported in the large majority of patients during the progression of the disease. Moreover, this signs are frequently inaugurating the disease. The investigators have previously performed a preliminary single-center study which permitted to identify one female patient with Fabry disease in a series of 147 consecutive patients with chronic pain tested. The investigators now propose to confirm the results of our preliminary study. The investigators plan to evaluate the prevalence of Fabry disease in a series of 1000 patients suffering from chronic pains of undetermined aetiology and consecutively recruited.
Read the detailed description
Fabry disease (FD) is a rare X-linked multisytemic lysosomal disorder caused by alpha-galactosidase deficiency. Globotriaosylcéramide (Gb3) deposits are observed in almost all tissues examined. Signs of the disease appear earlier and are more severe in affected males than in females. Myocardiopathy, renal failure and neurological signs including chronic pain and peripheral neuropathies are the most frequent signs. The availability of two enzymatic replacement therapies now provides a specific and effective treatment for patients. The prevalence of FD is estimated between 1/40,000 and 1/117,000. The frequency of Fabry disease has previously been estimated in several series of patients presenting one single sign, ie renal failure, hypertrophic myocardiopathy and early onset stroke. However, no data are available about the prevalence of FD in populations of patients suffering from chronic pains of unknown origin.
The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010).
The patients in whom the diagnosis of FD is established during this study, will be call in for an additional visit in the Investigating Centre in order to confirm the diagnosis and propose suitable assessment and care.
- Conditions
- Fabry's Disease, Chronic Pain
- Being tested
- Diagnosis of Fabry disease
- Keywords
- Prevalence Study, Fabry's disease, Chronic pain
- Medical subject headings
- Fabry Disease, Chronic Pain
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diagnosis of Fabry diseaseGenetic
The diagnosis of Fabry disease necessitates biochemical enzymatic measures of alphagalactosidase A activity in males, and genetic analysis using direct sequencing of GLA in females.
| Study group | Role | What they receive |
|---|---|---|
| Patients with chronic pains of unknown aetiology | Other | Not described Receives: Genetic: Diagnosis of Fabry disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnosis of Fabry disease in one patient suffering from chronic pains
Measured: J1 to 2 months after inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 May 2015 (estimated)
- Study start5 Mar 2015
- Primary completion15 Dec 2021
- Study completion15 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fabry's DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 776 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Cyril GOIZET, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02450604
- Sponsor's protocol ID
- CHUBX 2014/23
- Acronym
- DOUFABIS
- Status last verified
- Aug 2023
- First submitted
- 18 May 2015
- Last updated
- 14 May 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Angelini C, Bar C, Baudier MP, Fergelot P, Lancelot G, Rooryck C, Germain DP, Jabbour F, Blanchet AS, Cauchie A, Sarrazin E, Bellance R, Lefaucheur JP, Bismuth J, Ranque-Garnier S, Corand V, Coupry I, Goizet C; DOUFABIS Consortium. Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies. Eur J Pain. 2025 Jan;29(1):e4708. doi: 10.1002/ejp.4708. Epub 2024 Aug 4.
PubMed 39099234
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
- ClinicalTrials.gov ID
- NCT02450604
- Acronym / sponsor ID
- DOUFABIS / CHUBX 2014/23
- Conditions
- Fabry's Disease, Chronic Pain
- Keywords
- Prevalence Study, Fabry's disease, Chronic pain
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 776 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 5 Mar 2015 (actual)
- Primary completion
- 15 Dec 2021 (actual)
- Study completion
- 15 Dec 2021 (actual)
- First posted
- 21 May 2015 (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 is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection of one of these organs. Acroparesthesias and chronic crises of pain of different origins are reported in the large majority of patients during the progression of the disease. Moreover, this signs are frequently inaugurating the disease. The investigators have previously performed a preliminary single-center study which permitted to identify one female patient with Fabry disease in a series of 147 consecutive patients with chronic pain tested. The investigators now propose to confirm the results of our preliminary study. The investigators plan to evaluate the prevalence of Fabry disease in a series of 1000 patients suffering from chronic pains of undetermined aetiology and consecutively recruited.
Detailed description
Fabry disease (FD) is a rare X-linked multisytemic lysosomal disorder caused by alpha-galactosidase deficiency. Globotriaosylcéramide (Gb3) deposits are observed in almost all tissues examined. Signs of the disease appear earlier and are more severe in affected males than in females. Myocardiopathy, renal failure and neurological signs including chronic pain and peripheral neuropathies are the most frequent signs. The availability of two enzymatic replacement therapies now provides a specific and effective treatment for patients. The prevalence of FD is estimated between 1/40,000 and 1/117,000. The frequency of Fabry disease has previously been estimated in several series of patients presenting one single sign, ie renal failure, hypertrophic myocardiopathy and early onset stroke. However, no data are available about the prevalence of FD in populations of patients suffering from chronic pains of unknown origin.
The diagnosis of FD will be performed by standard procedures following international recommendations. These require the search for a deficiency of alphagalactosidase A activity on leucocytes in males and genetic analysis of the GLA gene in females (Germain et al. 2010).
The patients in whom the diagnosis of FD is established during this study, will be call in for an additional visit in the Investigating Centre in order to confirm the diagnosis and propose suitable assessment and care.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with chronic pains of unknown aetiology | Other | Genetic: Diagnosis of Fabry disease |
Who may qualify
- Ages
- 6 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- patients of both sex,
- aged from 6 to 80,
- with chronic pains of unknown aetiology including: acroparesthesias, and/or pain crises evolving more than 3 months, continued neuropathic evolving more than 3 months, and/or multiple pains evolving more than 3 months and/or recurrent abdominal crises of pain who come for a clinical visit in the pain Centres of France.
Key exclusion criteria (1 listed)
- chronic pain of known cause
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 |
|---|---|---|
| Diagnosis of Fabry diseaseThe diagnosis of Fabry disease necessitates biochemical enzymatic measures of alphagalactosidase A activity in males, and genetic analysis using direct sequencing of GLA in females. | Genetic | Patients with chronic pains of unknown aetiology |
Primary outcome
Diagnosis of Fabry disease in one patient suffering from chronic pains
Time frame: J1 to 2 months after inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 2026.
- Results publication: PubMed 39099234Angelini C, Bar C, Baudier MP, Fergelot P, Lancelot G, Rooryck C, Germain DP, Jabbour F, Blanchet AS, Cauchie A, Sarrazin E, Bellance R, Lefaucheur JP, Bismuth J, Ranque-Garnier S, Corand V, Coupry I, Goizet C; DOUFABIS Consortium. Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies. Eur J Pain. 2025 Jan;29(1):e4708. doi: 10.1002/ejp.4708. Epub 2024 Aug 4.
- 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.
Cyril GOIZET principal investigator
University Hospital, Bordeaux
21 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Diagnosis of Fabry disease in people with Fabry's Disease and Chronic Pain, run by University Hospital, Bordeaux at 21 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 3 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: finished, as of the sponsor's last update on 14 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 21 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Diagnosis of Fabry disease in one patient suffering from chronic pains (time frame: J1 to 2 months after inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02450604, which also lists 1 linked publication.
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 14 May 2026.