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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with chronic pains of unknown aetiology | Other |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Diagnosis of Fabry disease | Genetic | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Diagnosis of Fabry disease in one patient suffering from chronic pains | J1 to 2 months after inclusion |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Cyril GOIZET | University Hospital, Bordeaux | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cs douleur chronique GHSR, CHU Sud Réunion | Saint-Pierre | La Réunion | 97448 | France | ||
| CeRCa, Unité de Neuromyologie, CHU de Fort de France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39099234 | Result | 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. |
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| FORT de France |
| Martinique |
| 97261 |
| France |
| Centre Douleurs Chroniques, CH de la Côte Basque | Bayonne | 64109 | France |
| Centre Douleurs Chroniques, CHU de Bordeaux | Bordeaux | 33076 | France |
| Service de médecine Polyvalent, CH de La Dracénie | Draguignan | 83007 | France |
| Anesthésie, Hôpital Raymond Poincaré | Garches | 92380 | France |
| Centre de la douleur de l'Adulte et de l'Enfant, CHU de Grenoble | Grenoble | 38043 | France |
| Médecine - Consultations Douleur, CH de La Réole | La Réole | 33192 | France |
| Unité Douleur et Soins Palliatifs, CH La Rochelle-Réaunis | La Rochelle | 17019 | France |
| Pole enfant - CETD Salengro, CHRU de Lille | Lille | 59037 | France |
| Pôle Anesthésie Consultation douleur, CHRU de Lille | Lille | 59037 | France |
| CETD La Timone, AP-HM | Marseille | 13385 | France |
| Centre d'Analgésie, CHRU Lapeyronie | Montpellier | 34295 | France |
| Centre d'Evaluation et de Traitement de la Douleur, CHU de Nîmes | Nîmes | 30029 | France |
| Service de Médecine de la Douleur et de Médecine Palliative, Hôpital Lariboisière-APHP | Paris | 75475 | France |
| Service de lutte contre la douleur et d'Anesthésie, CH Périgueux | Périgueux | 24 019 | France |
| Service d'Explorations Fonctionnelles et Consultations Neurologiques, CH Lyon-Sud | Pierre-Bénite | 69495 | France |
| Centre Antidouleurs, CHU de Reims | Reims | 51092 | France |
| Centre de la Douleur, CHRU de Strasbourg | Strasbourg | 67091 | France |
| Centre d'Analgésie Pédiatrique, Equipe Régionale Ressource en Soins Palliatifs-Equipe " Enfant-Do ", CHU de Toulouse | Toulouse | 31059 | France |
| Centre d'évaluation et de traitement de la Douleur, Hôpital Pierre-Paul Ricquet | Toulouse | 31059 | France |
| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| D059350 | Chronic Pain |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D010146 | Pain |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
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