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Marcel G. W. Dijkgraaf - One of the best experts on this subject based on the ideXlab platform.

Carla E. M. Hollak - One of the best experts on this subject based on the ideXlab platform.

Ari Zimran - One of the best experts on this subject based on the ideXlab platform.

  • Ethical considerations for Enzyme Replacement Therapy in neuronopathic Gaucher disease.
    Clinical genetics, 2008
    Co-Authors: Deborah Elstein, Ayala Abrahamov, Ari Zimran
    Abstract:

    Elstein D, Abrahamov A, Zimran A. Ethical considerations for Enzyme Replacement Therapy in neuronopathic Gaucher disease. Clin Genet 1998: 54: 179–184. 0 Munksgaard, 1998 Enzyme Replacement Therapy for Gaucher diseases, the most prevalent lysosmal storage disease, was originally approved by the FDA for type I patients and has proven to be both safe and effective in reducing hepatosplenomegaly and improving the hematological parameters. However, the use of Enzyme treatment in both neuronopathic forms has heretofore been on an investigational or trial basis, with reports of progression of neurological deterioration even at very high doses. To date, there are no guidelines for clinicians with regard to Enzyme Replacement Therapy in the neuronopathic forms of metabolic diseases. Herein, we discuss strategies derived from the literature ub-his treatment of very premature babies and from the Jewish Halachic point of view. In conclusion, we describe recommendations for the ethical treatment and/or withdrawal of treatment. as well as practical guidelines for dosage regimens, in children with neuronopathic Gaucher disease.

  • Thrombocytosis Associated with Enzyme Replacement Therapy in Gaucher Disease
    Acta haematologica, 2002
    Co-Authors: Altoon Dweck, Deborah Elstein, Dorit Blickstein, Ari Zimran
    Abstract:

    We describe a patient with an intact spleen and moderately severe symptoms of Gaucher disease in whom, after initiation of (low-dose) Enzyme Replacement Therapy (ERT), thrombocytosis (720 × 109/l) was documented. Checking the International Gaucher Registry database revealed that this patient is the only nonsplenectomized patient of more than 1,000 treated patients to experience ERT-induced thrombocytosis. Platelet counts dropped immediately after the discontinuation of ERT.

  • Use of Enzyme Replacement Therapy for during pregnancy Gaucher
    1997
    Co-Authors: Deborah Elstein, Ayala Abrahamov, Sorina Granovsky-grisaru, Ron Rabinowitz, Ruth Kanai, Ari Zimran
    Abstract:

    OBJECTIVE: To date there has been little published experience with Enzyme Replacement Therapy in pregnant women with symptomatic type I Gaucher disease. STUDY DESIGN: We describe six patients, including three with repeated early pregnancy loss, five of whom successfully carried pregnancies to term; the last pregnancy was terminated because of pulmonary hypertension. RESULTS: All pregnancies were uneventful and five resulted in healthy newborns. CONCLUSION: We concluded that in patients with Gaucher disease of childbearing age,for whom obstetric complications are an important symptom of the disease, pregnancy is not contraindicated (unless there is evidence or suspicion of pulmonary hypertension) and treatment should not be interrupted because the clinical improvement engendered by Enzyme Replacement Therapy is conducive to fewer complications during pregnancy and delivery and post partum. (Am J Obstet Gyneco11997;177: 1509-12.)

  • Use of Enzyme Replacement Therapy for Gaucher disease during pregnancy
    American journal of obstetrics and gynecology, 1997
    Co-Authors: Deborah Elstein, Ayala Abrahamov, Sorina Granovsky-grisaru, Ron Rabinowitz, Ruth Kanai, Ari Zimran
    Abstract:

    Abstract OBJECTIVE: To date there has been little published experience with Enzyme Replacement Therapy in pregnant women with symptomatic type I Gaucher disease. STUDY DESIGN: We describe six patients, including three with repeated early pregnancy loss, five of whom successfully carried pregnancies to term; the last pregnancy was terminated because of pulmonary hypertension. RESULTS: All pregnancies were uneventful and five resulted in healthy newborns. CONCLUSION: We concluded that in patients with Gaucher disease of childbearing age,for whom obstetric complications are an important symptom of the disease, pregnancy is not contraindicated (unless there is evidence or suspicion of pulmonary hypertension) and treatment should not be interrupted because the clinical improvement engendered by Enzyme Replacement Therapy is conducive to fewer complications during pregnancy and delivery and post partum.(Am J Obstet Gynecol 1997;177:12)

Gregory M. Pastores - One of the best experts on this subject based on the ideXlab platform.

  • Effects of Enzyme Replacement Therapy in Fabry disease—A comprehensive review of the medical literature
    Genetics in Medicine, 2010
    Co-Authors: Olivier Lidove, Michael L West, Luis E Figuera, Luiz R Carvalho, Ricardo Reisin, Christoph Kampmann, Rossella Parini, Guillem Pintos-morell, Kathy Nicholls, Gregory M. Pastores
    Abstract:

    Enzyme Replacement Therapy with α-galactosidase A has been used to treat Fabry disease since 2001. This article reviews the published evidence for clinical efficacy of the two available Enzyme preparations. We focused on heart, kidney, and nervous system manifestations, which impact both quality of life and overall prognosis. A literature search was undertaken to identify prospective open or randomized controlled trials of Enzyme Replacement Therapy in patients with Fabry disease published since 2001. To date, no definitive conclusion can be drawn from studies that have directly compared therapeutic responses between the two commercially available Enzyme preparations. Significant clinical benefits of Enzyme Replacement Therapy have been demonstrated, mainly in patients at an early phase of the disease, with beneficial effects on heart, kidneys, pain, and quality of life in treated patients. Incidence of antibodies against agalsidase alfa and agalsidase beta observed during major clinical studies suggests a greater antigenic response to agalsidase beta. Further studies are required to confirm the long-term clinical benefits of Enzyme Replacement Therapy. More studies with female patients are needed as are investigations of early initiation of Enzyme Replacement Therapy to determine the optimal time to start treatment to prevent irreversible organ damage. The value of adjunctive and supportive therapies should also be rigorously analyzed.

  • effects of Enzyme Replacement Therapy in fabry disease a comprehensive review of the medical literature
    Genetics in Medicine, 2010
    Co-Authors: Olivier Lidove, Luis E Figuera, Luiz R Carvalho, Ricardo Reisin, Christoph Kampmann, Rossella Parini, Michael West, Kathy Nicholls, Guillem Pintosmorell, Gregory M. Pastores
    Abstract:

    Effects of Enzyme Replacement Therapy in Fabry disease—A comprehensive review of the medical literature

  • Effects of Enzyme Replacement Therapy in Fabry disease--a comprehensive review of the medical literature.
    Genetics in Medicine, 2010
    Co-Authors: Olivier Lidove, Luis E Figuera, Luiz R Carvalho, Ricardo Reisin, Christoph Kampmann, Rossella Parini, Guillem Pintos-morell, Michael West, Kathy Nicholls, Gregory M. Pastores
    Abstract:

    Enzyme Replacement Therapy with α-galactosidase A has been used to treat Fabry disease since 2001. This article reviews the published evidence for clinical efficacy of the two available Enzyme preparations. We focused on heart, kidney, and nervous system manifestations, which impact both quality of life and overall prognosis. A literature search was undertaken to identify prospective open or randomized controlled trials of Enzyme Replacement Therapy in patients with Fabry disease published since 2001. To date, no definitive conclusion can be drawn from studies that have directly compared therapeutic responses between the two commercially available Enzyme preparations. Significant clinical benefits of Enzyme Replacement Therapy have been demonstrated, mainly in patients at an early phase of the disease, with beneficial effects on heart, kidneys, pain, and quality of life in treated patients. Incidence of antibodies against agalsidase alfa and agalsidase beta observed during major clinical studies suggests a greater antigenic response to agalsidase beta. Further studies are required to confirm the long-term clinical benefits of Enzyme Replacement Therapy. More studies with female patients are needed as are investigations of early initiation of Enzyme Replacement Therapy to determine the optimal time to start treatment to prevent irreversible organ damage. The value of adjunctive and supportive therapies should also be rigorously analyzed.

  • Enzyme-Replacement Therapy for Pompe disease
    Pediatric Health, 2009
    Co-Authors: Gregory M. Pastores, Derralynn Hughes
    Abstract:

    Pompe disease (α-glucosidase deficiency; also known as glycogen storage disease type II) is the first lysosomal storage disorder for which the biochemical basis was determined. Development of Enzyme-Replacement Therapy for Pompe disease initially involved competing commercial interests and clinical trials using two different Enzyme formulations, including one derived from transgenic rabbit’s milk. Further studies have since been conducted with the Enzyme generated from transduction of Chinese hamster ovary cells. Therapeutic benefits have been observed in treated patients with either the infantile or late-onset form of Pompe disease; clinical subtypes with marked differences in clinical course and survival. Several factors, including disease duration and antibody formation, appear to influence clinical outcome of Enzyme-Replacement Therapy. Recently, defects of autophagy have been demonstrated; these changes may represent a separate target for therapeutic intervention to optimize outcome. Meanwhile, issue...

Marieke Biegstraaten - One of the best experts on this subject based on the ideXlab platform.

  • retrospective study of long term outcomes of Enzyme Replacement Therapy in fabry disease analysis of prognostic factors
    PLOS ONE, 2017
    Co-Authors: Maarten Arends, Derralynn Hughes, Marieke Biegstraaten, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver Watkinson, Frederic M Vaz, Andre B P Van Kuilenburg, Christoph Wanner
    Abstract:

    Despite Enzyme Replacement Therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of Enzyme Replacement Therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac and renal disease) we retrospectively evaluated 293 treated patients from three international centers of excellence. As expected, age, sex and phenotype were important predictors of event rate. Clinical events before Enzyme Replacement Therapy, cardiac mass and eGFR at baseline predicted an increased event rate. eGFR was the most important predictor: hazard ratios increased from 2 at eGFR 90. In addition, men with classical disease and a baseline eGFR 60. Proteinuria was a further independent risk factor for decline in eGFR. Increased cardiac mass at baseline was associated with the most robust decrease in cardiac mass during treatment, while presence of cardiac fibrosis predicted a stronger increase in cardiac mass (3.36 gram/m2/year). Of other cardiovascular risk factors, hypertension significantly predicted the risk for clinical events. In conclusion, besides increasing age, male sex and classical phenotype, faster disease progression while on Enzyme Replacement Therapy is predicted by renal function, proteinuria and to a lesser extent cardiac fibrosis and hypertension.

  • Hearing loss in adult patients with Fabry disease treated with Enzyme Replacement Therapy
    Journal of inherited metabolic disease, 2014
    Co-Authors: Eefje B. Suntjens, Marieke Biegstraaten, Carla E. M. Hollak, Bouwien E. Smid, Wouter A. Dreschler, Gabor E. Linthorst
    Abstract:

    Introduction Data on prevalence, natural history, and effect of Enzyme Replacement Therapy (ERT) on hearing loss (HL) in Fabry disease (FD) are scarce.

  • Cost-effectiveness of Enzyme Replacement Therapy for type 1 Gaucher disease
    Orphanet journal of rare diseases, 2014
    Co-Authors: Laura Van Dussen, Marieke Biegstraaten, Carla E. M. Hollak, Marcel G. W. Dijkgraaf
    Abstract:

    Objective To evaluate the cost-effectiveness of Enzyme Replacement Therapy (ERT) compared to standard medical care without ERT in the Dutch cohort of patients with type 1 Gaucher disease (GD I).