Research Topics
Species | D P GermainSummaryCountry: France Publications
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Publications
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studiesDominique P Germain
Division of Medical Genetics, hôpital Raymond Poincaré AP HP, University of Versailles St Quentin en Yvelines UVSQ, Garches, 92380, France
Orphanet J Rare Dis 7:91. 2012..We report on the safety and pharmacodynamics of migalastat hydrochloride, an investigational pharmacological chaperone given orally at 150 mg every-other-day...
Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studiesD P Germain
Laboratoire de Genetique et Biologie Cellulaire, Universite de Versailles St Quentin en Yvelines, Versailles, France
Int J Clin Pharmacol Ther 47:S111-7. 2009..Oral administration of 1-deoxygalactonojirimycin to transgenic mice expressing a mutant form of human alpha-gal A (R301Q) yielded higher alpha-gal A activity in major tissues, compared with untreated transgenic mice...- Fabry diseaseDominique P Germain
University of Versailles St Quentin en Yvelines, Faculté de Médecine Paris Ile de France Ouest PIFO, 78035 Versailles, France
Orphanet J Rare Dis 5:30. 2010.... 
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzymeDavid Bodensteiner
Division of Hematology Oncology, University of Kansas Medical Center, Kansas City, Kansas 66205, USA
Genet Med 10:353-8. 2008....- [Enzyme replacement therapy of lysosomal storage diseases]D P Germain
Université de Versailles St Quentin en Yvelines UVSQ, 78035 Versailles, France
Rev Med Interne 31:S279-91. 2010..Molecular chaperones (e.g. migalastat for Fabry disease) and inhibitors of glucosylceramide synthesis (e.g. eliglustat tartrate for Gaucher disease) are currently under investigation in various clinical trials... - [Prenatal diagnosis of Gaucher disease]D P Germain
Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif, Assistance Publique, Hopitaux de Paris, Hopital Raymond Poincare, 104, Boulevard Raymond Poincare, 92380 Garches, France
Rev Med Interne 28:S193-7. 2007..Improvement in substrate deprivation therapy or gene therapy may provide a cure for patients with these disorders in the future... - Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case reportDominique P Germain
Division of Medical Genetics, hôpital Raymond Poincaré AP HP, 92380 Garches, France
Eur J Med Genet 53:111-2. 2010..The decision to administer ERT during pregnancy should be made on an individual basis, considering the FD status and possible risks... - Ehlers-Danlos syndrome type IVDominique P Germain
Centre de référence pour la maladie de Fabry et les maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos, pseudoxanthome élastique, mucopolysaccharidoses, Assistance Publique Hopitaux de Paris, Paris, France
Orphanet J Rare Dis 2:32. 2007..Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Surgery may, however, be required urgently to treat potentially fatal complications... - Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?D P Germain
Department of Genetics, Hopital Broussais, Paris, France
Hum Mutat 16:449. 2000 - Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry diseaseD P Germain
, , Paris, France
Hum Mutat 17:353. 2001 - Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticumJ Perdu
Département de génétique, Hopital Broussais, Paris, France
Hum Mutat 17:74-5. 2001.... - Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to algluceraseD P Germain
Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
Mutat Res 483:89-94. 2001..Our results may help to shed light on the mechanisms underlying this phenomenon which, in the rare instances where it occurs, hampers the efficacy of enzyme replacement therapy... - Compressibility of the carotid artery in patients with pseudoxanthoma elasticumP Boutouyrie
Department of Pharmacology, INSERM EMI 0107, , Paris, France
Hypertension 38:1181-4. 2001..In conclusion, CAW was measurable in vivo and noninvasively in humans. The higher CAW of PXE patients compared with that of control subjects suggests that proteoglycans are important determinants of compressibility... - Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatchesD P Germain
CHU Cochin Port Royal, Universite Rene Descartes, Paris, France
Biochem Biophys Res Commun 257:708-13. 1999..By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity... - Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causingD P Germain
Département de génétique, Universite Paris VI, Paris, France
Biochem Biophys Res Commun 274:297-301. 2000..These data indicate that the R1268Q variant in the MRP6 gene does not cause PXE per se. Further studies will elucidate if it may play a role when found in compound heterozygotes... - [Vestibular and cochlear manifestations in Fabry's disease]D Malinvaud
Service d ORL et de Chirurgie Cervico faciale, Hopital Europeen Georges Pompidou, Universite Paris V, Paris Cedex 15, France
Rev Med Interne 31:S251-6. 2010..Still on study, it may also be active both on hearing loss and vestibular disturbances... - Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS studyAlbert A Hagege
Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Department of Cardiology, University Paris Descartes, INSERM U 633, Paris, France
Heart 97:131-6. 2011..The prevalence of FD in patients with LVH of 13 mm or greater, screened using the leucocyte alpha-galactosidase A (α-gal A) activity test, a technique that is difficult to apply routinely, ranged from 0% to 6%... - [Enzyme replacement therapies for lysosomal storage disorders.]Dominique P Germain
Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Med Sci (Paris) 21:77-83. 2005..double dagger... - Chiari type I malformation in four unrelated patients affected with Fabry diseaseDominique P Germain
Assistance Publique Hopitaux de Paris, Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Eur J Med Genet 49:419-25. 2006..Whether the association is coincidental or not will need further studies but our data suggest that CMI should be ruled out in all Fabry patients... - Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry diseaseDominique P Germain
Assistance Publique Hopitaux de Paris, Paris, France
J Am Soc Nephrol 18:1547-57. 2007..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types... - [Genetics of Fabry disease: diagnostic and therapeutic implications]Dominique P Germain
Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris 75, France
Presse Med 36:1S14-9. 2007..The GLA gene has been cloned and more than 300 mutations have been identified. Most of them are private and have been identified in only one family.. - [Functional renal investigation in Fabry disease]Marc Froissart
Departement de Physiologie, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, INSERM U872 et Université Paris Descartes, Paris 75, France
Presse Med 36:1S36-42. 2007.... - [Development of an orphan drug to treat a genetic disease: the paradigm of agalsidase beta]Dominique P Germain
Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris 75, France
Presse Med 36:1S69-75. 2007.... - Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapyDominique P Germain
, , Paris, France
Clin Ther 29:S17-8. 2007 - [Recent advances of Fabry disease screening for at risk population.]Eric Caudron
Groupe de Chimie Analytique de Paris Sud, EA 3343, Laboratoire de Chimie Analytique, Faculte de Pharmacie, 5, rue Jean Baptiste Clement, 92296 Chatenay Malabry, France
Med Sci (Paris) 21:48-50. 2005..Only 9 of these 12 hererozygous women (75 %) present a reduced activity of alpha-galactosidase A. double dagger... - [Bone involvement in Fabry disease.]Dominique P Germain
Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Med Sci (Paris) 21:43-4. 2005..Using the World Health Organization classification, 20 of the 23 patients (88 %) with FD had either osteopenia (n =11) or osteoporosis (n = 9) at one or both sites. double dagger... - [Inherited metabolic cardiomyopathies]Dominique P Germain
Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris 75, France
Presse Med 36:1S48-54. 2007..In the infantile form of Pompe disease, enzyme replacement therapy with olglucosidase alpha shows efficacy on cardiac failure with a significant regression of ventricular hypertrophy on ECG, echocardiography and radiography.. - Gaucher's disease: a paradigm for interventional geneticsD P Germain
Clinical Genetics Unit, Hopital Europeen Georges Pompidou, Paris, France
Clin Genet 65:77-86. 2004..Small molecule inhibitors of glucosylceramide synthase are being developed for substrate reduction therapy. Other potential therapeutic options such as chaperon-mediated enzyme enhancement therapy and gene therapy are being explored... - Arterial remodelling in Fabry diseaseP Boutouyrie
Department of Pharmacology, INSERM EMI 107, , Paris, France
Acta Paediatr Suppl 91:62-6. 2002..CONCLUSION: This study presents evidence of a major increase in arterial wall thickness and distensibility, measurable at the site of a medium-sized artery, in a cohort of patients with classic Fabry disease... - Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher diseaseD P Germain
Laboratoire de Génétique et Pathologie Métabolique, Institut National de la Santé et de la Recherche Médicale INSERM U 129, Paris, France
Am J Hum Genet 63:415-27. 1998..The observed influence of multifactorial control on this monogenic disease is discussed... - Endothelial markers and homocysteine in patients with classic Fabry diseaseK Demuth
Department of Biochemistry, , Paris, France
Acta Paediatr Suppl 91:57-61. 2002.... - Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patientsM Senechal
Department of Genetics, , Paris, France
Clin Genet 63:46-52. 2003..Cardiologists should be aware of the diagnosis of Fabry disease in patients presenting with LVH, concentric remodeling, mitral and aortic valve thickening on echocardiography, short PR interval and conduction defects on ECG... - Clinical and genetic features of vascular Ehlers-Danlos syndromeDominique P Germain
, , Paris, France
Ann Vasc Surg 16:391-7. 2002..Diagnosis should be suspected in any young person presenting with arterial or visceral rupture, carotid dissection, or colonic perforation. There are currently no specific treatments for EDS... - Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypesDominique P Germain
Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
Mol Med 8:306-12. 2002.... - Vascular Ehlers-Danlos syndromeDominique P Germain
Clinical Genetics Unit, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
Ann Genet 47:1-9. 2004.... - Increased carotid wall stress in vascular Ehlers-Danlos syndromePierre Boutouyrie
Department of Pharmacology and INSERM EMI 0107, , Paris, France
Circulation 109:1530-5. 2004..CONCLUSIONS: In vEDS patients, an abnormally low intima-media thickness generates a higher wall stress than in control subjects at the site of an elastic artery, which may increase the risk of arterial dissection and rupture... - Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trialKim Thanh Ong
Assistance Publique, Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France
Lancet 376:1476-84. 2010..Our aim was to assess the ability of celiprolol, a β(1)-adrenoceptor antagonist with a β(2)-adrenoceptor agonist action, to prevent arterial dissections and ruptures in vascular Ehlers-Danlos syndrome... - [Lysosomes and lysosomal storage diseases]Dominique P Germain
Département de génétique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
J Soc Biol 196:127-34. 2002.... - Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase betaAtul Mehta
Mol Genet Metab 95:114-5. 2008 - Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry diseaseJ Edmond Wraith
Royal Manchester Children s Hospital, Manchester, United Kingdom
J Pediatr 152:563-70, 570.e1. 2008.... - Fabry disease: recent advances in enzyme replacement therapyDominique P Germain
Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
Expert Opin Investig Drugs 11:1467-76. 2002..The complexity and relative rarity of Fabry disease necessitates a multi-disciplinary team approach that may be facilitated by a disease registry... - [Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]Dominique P Germain
, , 20, rue Leblanc, 75015 Paris
J Soc Biol 196:183-90. 2002..Long term safety and efficacy of replacement therapy are currently being investigated. Substrate deprivation and gene therapy may also prove future alternative therapeutic options... - Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry diseaseChristiane Auray-Blais
Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que, Canada J1H 5N4
Mol Genet Metab 93:331-40. 2008..0001) and treatment (p = 0.0011). In conclusion, we studied 35 mutations in 110 children and adults with Fabry disease and found a significant correlation between the types of mutations and total Gb3 excretion in Fabry patients... - Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry diseaseArnaud Delobel
, Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, 91198 Gif-sur-Yvette, Cedex, France
J Mass Spectrom 41:50-8. 2006..This method could be an interesting analytical tool for the biochemical investigation of (sphingo) lipid metabolism... - Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine M Eng
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Genet Med 8:539-48. 2006.... - Long-term safety and efficacy of enzyme replacement therapy for Fabry diseaseWilliam R Wilcox
Cedars-Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA
Am J Hum Genet 75:65-74. 2004..Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile... - Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapyRobert J Desnick
Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
Ann Intern Med 138:338-46. 2003.... - Cystatin C as a marker of early changes of renal function in Fabry nephropathySandro Feriozzi
Nephrology and Dialysis Unit, Ospedale Belcolle, Viterbo, Italy
J Nephrol 20:437-43. 2007..The use of cystatin C as a marker of glomerular filtration rate (GFR) was investigated in Fabry patients receiving ERT... - Females with Fabry disease frequently have major organ involvement: lessons from the Fabry RegistryWilliam R Wilcox
Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
Mol Genet Metab 93:112-28. 2008..Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy... - [Laboratory diagnosis of Fabry disease: historical perspectives and recent breakthroughs]Eric Caudron
Groupe de Chimie Analytique de Paris Sud, EA 4041 IFR 141, Faculte de Pharmacie Paris XI, Chatenay Malabry, France
Presse Med 36:1S76-81. 2007.... - Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry diseaseDominique P Germain
Clin Genet 68:93-5. 2005 - [A new imaging technique as a diagnostic tool: mass spectrometry]David Touboul
Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, Gif sur Yvette 91, France
Presse Med 36:1S82-7. 2007..The particular case of the Fabry disease is presented here in order to illustrate the present capabilities of this novel chemical imaging approach... - [Current practice in Fabry disease: a comprehensive multidisciplinary approach]Dominique P Germain
Presse Med 36:1S3-6. 2007 - Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry diseaseDavid Touboul
, Institut de Chimie des Substances Naturelles (ICSN-CNRS, Av. de la Terrasse, 91198, Gif-sur-Yvette Cedex, France
Anal Bioanal Chem 382:1209-16. 2005....