8 results on '"Laforet, Pascal"'
Search Results
2. Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.
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Schoser, Benedikt, van der Beek, Nadine A. M. E., Broomfield, Alexander, Brusse, Esther, Diaz‐Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W. W. M. Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, and van den Hout, Johanna M. P.
- Abstract
Background and purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late‐onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT. Methods: The European Pompe Consortium consists of 25 neuromuscular and metabolic experts from eight European countries. This update was performed after an in‐person meeting, three rounds of discussion and voting to provide a consensus recommendation. Results: The patient should be symptomatic, that is, should have skeletal muscle weakness or respiratory muscle involvement. Muscle magnetic resonance imaging findings showing substantial fat replacement can support the decision to start in a patient‐by‐patient scenario. Limited evidence supports switching ERT if there is no indication that skeletal muscle and/or respiratory function have stabilized or improved during standard ERT of 12 months or after severe infusion‐associated reactions. Switching of ERT should be discussed on a patient‐by‐patient shared‐decision basis. If there are severe, unmanageable infusion‐associated reactions and no stabilization in skeletal muscle function during the first 2 years after starting or switching treatment, stopping ERT should be considered. After stopping ERT for inefficacy, restarting ERT can be considered. Six‐monthly European Pompe Consortium muscle function assessments are recommended. Conclusions: The triple‐S criteria on ERT start, switch and stop include muscle magnetic resonance imaging as a supportive finding and the potential option of home infusion therapy. Six‐monthly long‐term monitoring of muscle function is highly recommended to cover insights into the patient's trajectory under ERT. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α
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Kishnani, Priya, Tarnopolsky, Mark, Roberts, Mark, Sivakumar, Kumarswamy, Dasouki, Majed, Dimachkie, Mazen M, Finanger, Erika, Goker-Alpan, Ozlem, Guter, Karl A, Mozaffar, Tahseen, Pervaiz, Muhammad Ali, Laforet, Pascal, Levine, Todd, Adera, Matthews, Lazauskas, Richard, Sitaraman, Sheela, Khanna, Richie, Benjamin, Elfrida, Feng, Jessie, Flanagan, John J, Barth, Jay, Barlow, Carrolee, Lockhart, David J, Valenzano, Kenneth J, Boudes, Pol, Johnson, Franklin K, and Byrne, Barry
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Pharmacology and Pharmaceutical Sciences ,Biomedical and Clinical Sciences ,Rare Diseases ,Chronic Liver Disease and Cirrhosis ,Digestive Diseases ,Liver Disease ,5.1 Pharmaceuticals ,6.1 Pharmaceuticals ,Evaluation of treatments and therapeutic interventions ,Development of treatments and therapeutic interventions ,1-Deoxynojirimycin ,Administration ,Oral ,Adult ,Drug Administration Schedule ,Drug Synergism ,Drug Therapy ,Combination ,Enzyme Replacement Therapy ,Female ,Glycogen Storage Disease Type II ,Humans ,Infusions ,Intravenous ,Lysosomes ,Male ,Middle Aged ,Muscle ,Skeletal ,Patient Safety ,Treatment Outcome ,alpha-Glucosidases ,Pompe disease ,enzyme replacement therapy ,pharmacokinetics ,pharmacological chaperone ,Biological Sciences ,Technology ,Medical and Health Sciences ,Biotechnology ,Genetics ,Clinical sciences ,Medical biotechnology - Abstract
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle. This phase 2a study consisted of an open-label, fixed-treatment sequence that evaluated the effect of single oral doses of 50 mg, 100 mg, 250 mg, or 600 mg duvoglustat HCl on the pharmacokinetics and tissue levels of intravenously infused AA (20 mg/kg) in Pompe patients. AA alone resulted in increases in total GAA activity and protein in plasma compared to baseline. Following co-administration with duvoglustat HCl, total GAA activity and protein in plasma were further increased 1.2- to 2.8-fold compared to AA alone in all 25 Pompe patients; importantly, muscle GAA activity was increased for all co-administration treatments from day 3 biopsy specimens. No duvoglustat-related adverse events or drug-related tolerability issues were identified.
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- 2017
4. The Glycogen Storage Diseases and Related Disorders
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Walter, John, Labrune, Philippe A., Laforet, Pascal, Saudubray, Jean-Marie, editor, Baumgartner, Matthias R., editor, and Walter, John, editor
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- 2016
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5. The Glycogen Storage Diseases and Related Disorders
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Laforêt, Pascal, Weinstein, David A., Peter A. Smit, G., Saudubray, Jean-Marie, editor, van den Berghe, Georges, editor, and Walter, John H., editor
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- 2012
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6. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
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van der Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., van Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz-Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl-Eugen, Mongini, Tiziana, Muller-Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, van der Beek, Nadine A. M. E, Wenninger, Stephan, Pediatrics, Neurology, UCL - SSS/IONS/NEUR - Clinical Neuroscience, and UCL - (SLuc) Service de neurologie
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0301 basic medicine ,Pediatrics ,alglucosidase alfa ,алглюкозидаза альфа ,adult patients ,Disease ,болезнь помпе ,enzyme replacement therapy ,guidelines ,Pompe disease ,treatment recommendations ,Adult ,Consensus ,Drug Administration Schedule ,Europe ,Glycogen Storage Disease Type II ,Humans ,Practice Guidelines as Topic ,Enzyme Replacement Therapy ,Quality of Life ,Neurology ,Neurology (clinical) ,0302 clinical medicine ,Quality of life ,взрослые пациенты ,610 Medicine & health ,Treatment recommendations ,Adult patients ,Alglucosidase alfa ,Enzyme replacement therapy ,Guidelines ,ферментная заместительная терапия ,руководство ,medicine.drug ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Muscle disorder ,03 medical and health sciences ,medicine ,RC346-429 ,Pregnancy ,business.industry ,nutritional and metabolic diseases ,medicine.disease ,Clinical trial ,рекомендации по лечению ,030104 developmental biology ,Physical therapy ,Observational study ,Neurology. Diseases of the nervous system ,business ,030217 neurology & neurosurgery - Abstract
Введение. Болезнь Помпе – редкое наследственное мышечное заболевание, для лечения которого с 2006 г. применяют ферментную заместительную терапию. В документе представлены последние рекомендации по началу и прекращению ферментной заместительной терапии у взрослых пациентов. Методы. В ходе Европейского консорциума по болезни Помпе эксперты из 11 европейских стран обсудили данные литературы об эффективности ферментной заместительной терапии у взрослых пациентов на основании оценки показателей прогноза клинического течения и качества жизни больных. В данной статье представлены результаты обсуждений 3 согласительных совещаний во время консорциума. Результаты. Специалисты пришли к соглашению относительно подтверждения диагноза болезни Помпе, сроков начала ферментной заместительной терапии, показаний и условий ее прекращения и применения во время беременности. Общее соглашение по перечисленным вопросам принято на основании мнения экспертов и подтверждено данными литературы. При проведении исследований в группах были получены данные о положительном эффекте ферментной заместительной терапии. Анализ проводили при оценке 586 взрослых пациентов из 1 клинического испытания и 43 наблюдательных исследований. Обратили внимание на индивидуальные различия в эффективности лечения, обнаруженные в отдельных сообщениях. В 11 наблюдательных исследованиях, включающих пациентов с тяжелой степенью поражения, также была доказана эффективность ферментной заместительной терапии. Исследования эффектов лечения у больных на доклинической стадии заболевания отсутствуют. Выводы. В ходе 1-го Европейского консорциума на основании международного экспертного мнения составлены рекомендации по началу и прекращению ферментной заместительной терапии у взрослых пациентов с болезнью Помпе. Ключевые слова: взрослые пациенты, алглюкозидаза альфа, ферментная заместительная терапия, руководство, болезнь Помпе, рекомендации по лечению
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- 2019
7. SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france.
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Echaniz‐Laguna, Andoni, Carlier, Robert‐Yves, Laloui, Kenza, Carlier, Pierre, Salort‐Campana, Emmanuelle, Pouget, Jean, and Laforet, Pascal
- Abstract
ABSTRACT Introduction: Acid α-glucosidase deficiency, that is, Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated to prevent progression of the disease. Methods: We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry. Results: The patients had a mean age of 45 (range 24-75) years, a median follow-up duration of 2 (range 1-22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography. All presented with at least 1 subclinical abnormality, including hyperCKemia, vacuolar myopathy, and muscle MRI abnormalities, suggesting that subclinical myopathy was present in all cases. Conclusions: Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT. Muscle Nerve 51: 884-889, 2015 [ABSTRACT FROM AUTHOR]
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- 2015
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8. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns
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Carlier, Robert-Yves, Laforet, Pascal, Wary, Claire, Mompoint, Dominique, Laloui, Kenza, Pellegrini, Nadine, Annane, Djillali, Carlier, Pierre G., and Orlikowski, David
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MAGNETIC resonance imaging , *GLYCOGEN storage disease type II , *PELVIC bones , *MUSCLE diseases , *AGE of onset , *ARTIFICIAL respiration - Abstract
Abstract: To describe muscle involvement on whole-body MRI scans in adult patients at different stages of late-onset Pompe disease. Twenty patients aged 37 to 75 were examined. Five were bedridden and required ventilatory support. Axial and coronal T1 turbo-spin-echo sequences were performed on 1.5T or 3T systems. MRI was scored for 47 muscles using Mercuri’s classification. Whole-body scans were obtained with a mean in-room time of 29min. Muscle changes consisted of internal bright signals of fatty replacement without severe retraction of the muscles’ corpus. Findings were consistent with previous descriptions of spine extensors and pelvic girdle, but also provided new information on recurrent muscle changes particularly in the tongue and subscapularis muscle. Moreover thigh involvement was more heterogeneous than previously described, in terms of distribution across muscles as well as with respect to the overall clinical presentation. Whole-body MRI provides a very evocative description of muscle involvement in Pompe disease in adults. [Copyright &y& Elsevier]
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- 2011
- Full Text
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