The Experts below are selected from a list of 106473 Experts worldwide ranked by ideXlab platform
N. Van Den Bulk - One of the best experts on this subject based on the ideXlab platform.
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Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPL^S447X) gene therapy for lipoprotein lipase deficiency: an Open-Label Trial
Gene Therapy, 2013Co-Authors: Daniel Gaudet, Julie Méthot, Diane Brisson, S. Déry, C Essiembre, G Tremblay, Karine Tremblay, J. De Wal, Jaap Twisk, N. Van Den BulkAbstract:We describe the 2-year follow-up of an Open-Label Trial (CT-AMT-011–01) of AAV1-LPL^S447X gene therapy for lipoprotein lipase (LPL) deficiency (LPLD), an orphan disease associated with chylomicronemia, severe hypertriglyceridemia, metabolic complications and potentially life-threatening pancreatitis. The LPL ^ S447X gene variant, in an adeno-associated viral vector of serotype 1 (alipogene tiparvovec), was administered to 14 adult LPLD patients with a prior history of pancreatitis. Primary objectives were to assess the long-term safety of alipogene tiparvovec and achieve a ⩾40% reduction in fasting median plasma triglyceride (TG) at 3–12 weeks compared with baseline. Cohorts 1 ( n =2) and 2 ( n =4) received 3 × 10^11 gc kg^−1, and cohort 3 ( n =8) received 1 × 10^12 gc kg^−1. Cohorts 2 and 3 also received immunosuppressants from the time of alipogene tiparvovec administration and continued for 12 weeks. Alipogene tiparvovec was well tolerated, without emerging safety concerns for 2 years. Half of the patients demonstrated a ⩾40% reduction in fasting TG between 3 and 12 weeks. TG subsequently returned to baseline, although sustained LPL ^ S447X expression and long-term changes in TG-rich lipoprotein characteristics were noted independently of the effect on fasting plasma TG.
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Efficacy and long term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open label Trial
Gene Therapy, 2012Co-Authors: Daniel Gaudet, Julie Méthot, Diane Brisson, S. Déry, C Essiembre, G Tremblay, Karine Tremblay, J. De Wal, Jaap Twisk, N. Van Den BulkAbstract:Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPL S447X ) gene therapy for lipoprotein lipase deficiency: an Open-Label Trial
J Christodoulou - One of the best experts on this subject based on the ideXlab platform.
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Medium-term open label Trial of L-carnitine in Rett syndrome.
Brain & development, 2001Co-Authors: C J Ellaway, J Peat, K Williams, H Leonard, J ChristodoulouAbstract:Treatment strategies in Rett syndrome so far have been essentially symptomatic and supportive. In order to establish the medium-term effects of L-carnitine, an open label Trial was performed in a cohort of 21 Rett syndrome females, with a control group of 62 Rett syndrome females of a similar age, for a 6-month period. Compared with the Rett syndrome controls, treatment with L-carnitine led to significant improvements in sleep efficiency (P=0.027), especially in the subjects with a baseline sleep efficiency less than 90%, energy level (P
Robert Löfberg - One of the best experts on this subject based on the ideXlab platform.
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Open label Trial of granulocyte apheresis suggests therapeutic efficacy in chronically active steroid refractory ulcerative colitis
World journal of gastroenterology, 2005Co-Authors: Wolfgang Kruis, Axel Dignass, Elisabeth Steinhagen-thiessen, Julia Morgenstern, Joachim Mössner, Stephan Schreiber, Maurizio Vecchi, Alberto Malesci, Max Reinshagen, Robert LöfbergAbstract:Open label Trial of granulocyte apheresis suggests therapeutic efficacy in chronically active steroid refractory ulcerative colitis
Daniel Gaudet - One of the best experts on this subject based on the ideXlab platform.
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Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPL^S447X) gene therapy for lipoprotein lipase deficiency: an Open-Label Trial
Gene Therapy, 2013Co-Authors: Daniel Gaudet, Julie Méthot, Diane Brisson, S. Déry, C Essiembre, G Tremblay, Karine Tremblay, J. De Wal, Jaap Twisk, N. Van Den BulkAbstract:We describe the 2-year follow-up of an Open-Label Trial (CT-AMT-011–01) of AAV1-LPL^S447X gene therapy for lipoprotein lipase (LPL) deficiency (LPLD), an orphan disease associated with chylomicronemia, severe hypertriglyceridemia, metabolic complications and potentially life-threatening pancreatitis. The LPL ^ S447X gene variant, in an adeno-associated viral vector of serotype 1 (alipogene tiparvovec), was administered to 14 adult LPLD patients with a prior history of pancreatitis. Primary objectives were to assess the long-term safety of alipogene tiparvovec and achieve a ⩾40% reduction in fasting median plasma triglyceride (TG) at 3–12 weeks compared with baseline. Cohorts 1 ( n =2) and 2 ( n =4) received 3 × 10^11 gc kg^−1, and cohort 3 ( n =8) received 1 × 10^12 gc kg^−1. Cohorts 2 and 3 also received immunosuppressants from the time of alipogene tiparvovec administration and continued for 12 weeks. Alipogene tiparvovec was well tolerated, without emerging safety concerns for 2 years. Half of the patients demonstrated a ⩾40% reduction in fasting TG between 3 and 12 weeks. TG subsequently returned to baseline, although sustained LPL ^ S447X expression and long-term changes in TG-rich lipoprotein characteristics were noted independently of the effect on fasting plasma TG.
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Efficacy and long term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open label Trial
Gene Therapy, 2012Co-Authors: Daniel Gaudet, Julie Méthot, Diane Brisson, S. Déry, C Essiembre, G Tremblay, Karine Tremblay, J. De Wal, Jaap Twisk, N. Van Den BulkAbstract:Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPL S447X ) gene therapy for lipoprotein lipase deficiency: an Open-Label Trial
David R Cornblath - One of the best experts on this subject based on the ideXlab platform.
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An open‐label Trial of rituximab (Rituxan®) in multifocal motor neuropathy
Journal of the peripheral nervous system : JPNS, 2010Co-Authors: Vinay Chaudhry, David R CornblathAbstract:Multifocal motor neuropathy (MMN) is an acquired demyelinating motor neuropathy. Intravenous immunoglobulin (IVIg) has been found to be safe and effective. Rituximab, a genetically engineered monoclonal antibody against CD-20 antigen, has been reported effective in immune disorders including MMN. We performed an Open-Label Trial to determine if rituximab would reduce the IVIg requirement, disability, and impairment, and be safe in patients with MMN. Six MMN patients, who were on periodic IVIg treatments, received two doses of IV rituximab (1,000 mg) given 2 weeks later. Assessments were performed at baseline and at 2, 4, 6, 8, 10, and 12 months. The primary outcome was total amount of IVIg used during the 12-month study compared to the 12 months prior. Secondary outcomes included changes in Medical Research Council (MRC) sum scores, grip strength, disability and handicap scores, and safety. There was no significant change in IVIg use, MRC sum score, grip strength, overall disability sum score, or Rotterdam handicap scale. One patient developed a hypersensitivity reaction during the first infusion that responded to adjustments in the infusion rate and treatment with diphenhydramine and acetaminophen. We conclude that rituximab can be safely given to people with MMN but in this pilot study we were unable to reduce the amount of IVIg required, at least in the regimen used.
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an open label Trial of rituximab rituxan in multifocal motor neuropathy
Journal of The Peripheral Nervous System, 2010Co-Authors: Vinay Chaudhry, David R CornblathAbstract:Multifocal motor neuropathy (MMN) is an acquired demyelinating motor neuropathy. Intravenous immunoglobulin (IVIg) has been found to be safe and effective. Rituximab, a genetically engineered monoclonal antibody against CD-20 antigen, has been reported effective in immune disorders including MMN. We performed an Open-Label Trial to determine if rituximab would reduce the IVIg requirement, disability, and impairment, and be safe in patients with MMN. Six MMN patients, who were on periodic IVIg treatments, received two doses of IV rituximab (1,000 mg) given 2 weeks later. Assessments were performed at baseline and at 2, 4, 6, 8, 10, and 12 months. The primary outcome was total amount of IVIg used during the 12-month study compared to the 12 months prior. Secondary outcomes included changes in Medical Research Council (MRC) sum scores, grip strength, disability and handicap scores, and safety. There was no significant change in IVIg use, MRC sum score, grip strength, overall disability sum score, or Rotterdam handicap scale. One patient developed a hypersensitivity reaction during the first infusion that responded to adjustments in the infusion rate and treatment with diphenhydramine and acetaminophen. We conclude that rituximab can be safely given to people with MMN but in this pilot study we were unable to reduce the amount of IVIg required, at least in the regimen used.
