Enzyme Replacement Therapy For Mps

  enzyme replacement therapy for mps: The Blood-brain Barrier William M. Pardridge, 1993 The characterization of the blood-brain barrier (BBB) is undergoing a paradigm shift as the century-old concept of a passive, impermeable barrier that segregates blood and brain interstitial fluid is giving way to the idea that the BBB is a dynamic conduit for the transport between blood and brain of those nutrients, peptides, proteins, or immune cells that have access to certain transport systems localized within the BBB membranes. This volume contains 20 contributed chapters organized in four parts: cell-cell interactions, subcellular organelle function, signal transduction mechanisms, and gene expression. There is also a foreword by the late W.H. Oldendorf (1925-1992) on the teleology of the blood-brain barrier and the survival advantage conferred upon the organism by its presence in the vertebrate brain. Annotation copyright by Book News, Inc., Portland, OR
  enzyme replacement therapy for mps: Monoclonal Antibody Production National Research Council, Institute for Laboratory Animal Research, Committee on Methods of Producing Monoclonal Antibodies, 1999-05-06 The American Anti-Vivisection Society (AAVS) petitioned the National Institutes of Health (NIH) on April 23, 1997, to prohibit the use of animals in the production of mAb. On September 18, 1997, NIH declined to prohibit the use of mice in mAb production, stating that the ascites method of mAb production is scientifically appropriate for some research projects and cannot be replaced. On March 26, 1998, AAVS submitted a second petition, stating that NIH failed to provide valid scientific reasons for not supporting a proposed ban. The office of the NIH director asked the National Research Council to conduct a study of methods of producing mAb. In response to that request, the Research Council appointed the Committee on Methods of Producing Monoclonal Antibodies, to act on behalf of the Institute for Laboratory Animal Research of the Commission on Life Sciences, to conduct the study. The 11 expert members of the committee had extensive experience in biomedical research, laboratory animal medicine, animal welfare, pain research, and patient advocacy (Appendix B). The committee was asked to determine whether there was a scientific necessity for the mouse ascites method; if so, whether the method caused pain or distress; and, if so, what could be done to minimize the pain or distress. The committee was also asked to comment on available in vitro methods; to suggest what acceptable scientific rationale, if any, there was for using the mouse ascites method; and to identify regulatory requirements for the continued use of the mouse ascites method. The committee held an open data-gathering meeting during which its members summarized data bearing on those questions. A 1-day workshop (Appendix A) was attended by 34 participants, 14 of whom made formal presentations. A second meeting was held to finalize the report. The present report was written on the basis of information in the literature and information presented at the meeting and the workshop.
  enzyme replacement therapy for mps: Mucopolysaccharidoses Update (2 Volume Set) Shunji Tomatsu, Roberto Giugliani, Tadao Orii, Maurizio Scarpa, Paul Harmatz, Christine Lavery, Grzegorz Wegrzyn, Mucopolysaccharidoses (MPS) are caused by a deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: Chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and hyaluronan. Their catabolism may be blocked singly or in combination depending on the specific enzyme deficiency. There are eleven known enzyme deficiencies, resulting in seven distinct forms of MPS with a collective incidence higher than 1 in 25,000 live births. Accumulation of undegraded metabolites in lysosomes gives rise to distinct clinical syndromes. Generally, the clinical conditions progress if untreated, leading to developmental delay, systemic skeletal deformities, and early death.Other clinical features include coarse facial features, corneal clouding, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, heart valvular disease and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis. Patients may need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy throughout their lifetime. Current measures to intervene in bone disease progression and CNS involvement are not perfect and palliative, and improved therapies are urgently required and are being proposed.Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzymes to the brain and bones, especially avascular cartilage, to prevent or ameliorate the devastating neurological defects and skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion and damage, since the severity of CNS involvement and skeletal dysplasia is associated with the level of activity in a patient's daily life.For the maximum benefit of available therapies, early detection and intervention are critical. Newborn screening and diagnostic systems have been developed by using tandem mass spectrometry. We review the history of diagnosis and newborn screening as well. Overall, this book illustrates a to-date overview of the pathogenesis, diagnosis, biomarkers, screening, and updated therapies as well as their impact on MPS, including ERT, HSCT, gene therapy, and anti-inflammatory drugs. History and activities of MPS societies are also described. It is a comprehensive textbook meant to cover many areas in the field of MPS and appeals to a broad spectrum of readers including physicians, scientists, students, pharmaceutical companies, and MPS communities.
  enzyme replacement therapy for mps: Progressive Brain Disorders in Childhood Juan M. Pascual, 2017-04-20 A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
  enzyme replacement therapy for mps: The Metabolic & Molecular Bases of Inherited Disease Charles R. Scriver, 2001 Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
  enzyme replacement therapy for mps: Hematopoietic Stem Cell Transplantation in Clinical Practice Jennifer G. Treleaven, A. John Barrett, 2008-09-02 A guide to the practice of stem cell transplantation, its status in the treatment of various disorders and the problems that arise after transplantation, aimed at the whole transplant team. - An up to date guide to best practice in the use of stem cell transplantation, covering current status in the treatment of malignant and non-malignant conditions, practical aspects and problems such as infection and graft versus host disease. - Has a practical, accessible approach with free use of algorithms, list tables. - Aimed at the whole transplant team - this is an interdisciplinary field. - International contributor team with editors in the UK and USA. - Illustrated in colour throughout.
  enzyme replacement therapy for mps: Neuromuscular Disorders: Management and Treatment E-Book Tulio E. Bertorini, 2010-09-08 Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text.
  enzyme replacement therapy for mps: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, 2024-10-23 For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics
  enzyme replacement therapy for mps: NORD Guide to Rare Disorders National Organization for Rare Disorders, 2003 NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
  enzyme replacement therapy for mps: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias Hooshang Taybi, Ralph S. Lachman, 1996 Intended for the practitioner and student, this clinical radiologic reference is one of the most widely used by pediatric radiologists today. This edition features an expanded Gamuts section, which presents differential diagnoses of various clinical and radiologic symptoms and signs. Genetic information on syndromes and disorders is also included.
  enzyme replacement therapy for mps: Cells and Culture Thomas Noll, 2010-07-17 Regeneration of tissue to replace damaged or injured tissue is the goal of t- sue engineering. Biomaterials like polyglycolic acid, collagen and small-intestinal submuscosa provide a temporary scaffold to guide new tissue growth and or- nization. Typically, they need to be biodegradable, showing good cell atta- ment and proliferation and they should possess appropriate mechanical properties (Kim et al. , 2000). Synthetic polymers ful ll most of these requirements but lack cell-adhesion peptides on their surface to enhance cell attachment. Ce- adhesion peptides are present in ECM proteins like collagen and elastin. Thus a synthetic polymer coated with ECM proteins would result in a scaffold that mimics the natural cellular environment with enhanced cell attachment and p- liferation. The new bioactive scaffold will be made by combining a synthetic polymer coated with a layer of recombinant ECM proteins produced by CHO cells. The rst step consists of identifying polymers that give best results in terms of CHO cell attachment and growth. Classical techniques to determine biomass are inappropriate to evaluate 3-D structures. Thus a screening system based on stable GFP expressing CHO cells was used to compare the different scaffolds. Simple uorescent measurement after cell lysis allows determining cell attachment and p- liferation on synthetic polymers. Finally CHO cells producing human recombinant collagen I and elastin were generated. We showed that both proteins are expressed and secreted by CHO DG44 cells. 2 Materials and Methods 2.
  enzyme replacement therapy for mps: Handbook of Growth and Growth Monitoring in Health and Disease Victor R. Preedy, 2011-12-02 Growth is one of the human body’s most intricate processes: each body part or region has its own unique growth patterns. Yet at the individual and population levels, growth patterns are sensitive to adverse conditions, genetic predispositions, and environmental changes. And despite the body’s capacity to compensate for these developmental setbacks, the effects may be far-reaching, even life-long. The Handbook of Growth and Growth Monitoring in Health and Disease brings this significant and complex field together in one comprehensive volume: impact of adverse variables on growth patterns; issues at different stages of prenatal development, childhood, and adolescence; aspects of catch-up growth, endocrine regulation, and sexual maturation; screening and assessment methods; and international perspectives. Tables and diagrams, applications to other areas of health and disease, and summary points help make the information easier to retain. Together, these 140 self-contained chapters in 15 sections [ok?] cover every area of human growth, including: Intrauterine growth retardation. Postnatal growth in normal and abnormal situations. Cells and growth of tissues. Sensory growth and development. Effects of disease on growth. Methods and standards for assessment of growth, and more. The Handbook of Growth and Growth Monitoring in Health and Disease is an invaluable addition to the reference libraries of a wide range of health professionals, among them health scientists, physicians, physiologists, nutritionists, dieticians, nurses, public health researchers, epidemiologists, exercise physiologists, and physical therapists. It is also useful to college-level students and faculty in the health disciplines, and to policymakers and health economists.
  enzyme replacement therapy for mps: Fabry Disease Deborah Elstein, Gheona Altarescu, Michael Beck, 2010-08-02 Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
  enzyme replacement therapy for mps: Pediatric Ophthalmology and Strabismus Mitchell B. Strominger, 2008-01-01 This title in the Rapid Diagnosis in Ophthalmology Series presents a wealth of full-color images - along with differential diagnoses - in side-by-side page layouts to assist you in identifying a full range of disorders. A templated format expedites access to the guidance you need to diagnose the most common conditions related to pediatric ophthalmology and strabismus - from simple to complex - encountered in practice. Coverage of cutting-edge topics including phacomatosis, congenital ocular anomalies, TORCH syndrome, and more, help you keep your knowledge up to date. Hundreds of full-color images present onditions as they present in real life. Common diagnostic pitfalls discuss what to look out for when making a difficult diagnosis. A templated, color-coded layout and differential diagnosis boxes for each condition help you make quick, accurate clinical decisions. A focus on the most common conditions encountered in practice allows you to efficiently formulate treatment plans and referrals. SERIES EDITORS: Jay S. Duker, MD, Director, New England Eye Center, Vitreoretinal Diseases and Surgery Service; Director, Pediatric Retinal Referral Center, Uveitis & Immunology Service; Professor and Chair of Ophthalmology, Tufts University School of Medicine, Boston, MA and Marian S. Macsai, MD, Chief, Division of Ophthalmology, Evanston Northwestern Healthcare; Professor and Vice-Chair of the Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, MI
  enzyme replacement therapy for mps: Novel Therapeutic Concepts in Targeting Glioma Faris Farassati, 2012-04-04 Novel Therapeutic Concepts for Targeting Glioma offers a comprehensive collection of current information and the upcoming possibilities for designing new therapies for Glioma by an array of experts ranging from Cell Biologists to Oncologists and Neurosurgeons. A variety of topics cover therapeutic strategies based on Cell Signaling, Gene Therapy, Drug Therapy and Surgical methods providing the reader with a unique opportunity to expand and advance his knowledge of the field.
  enzyme replacement therapy for mps: Bone Dysplasias Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger, 2018 The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians. --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
  enzyme replacement therapy for mps: Artificial Cells, Cell Engineering and Therapy S Prakash, 2007-05-31 Artificial cells, cell engineering and therapy are emerging technologies which will make a significant impact on the future of medicine and healthcare. However, research within the field is vast. This unique book provides a comprehensive study of the most recent advances in the field and its practical applications.The first part of the book offers the reader an introduction to the basics of artificial cell technology with chapters on its origins, design, current status within medicine and future prospects. Part two covers apoptosis, the use of bone marrow stromal cells in myocardial regeneration together with signalling and tissue engineering. Part three discusses artificial cells for therapy, procedures for various clinical conditions and the current status of the discipline within the field. The book concludes with a final section on the role of artificial cells in medicine with particular focus on the use of artificial cells as blood substitutes and their potential use in myocardial regeneration, drug delivery and in treating kidney and bowel diseases, diabetes and cancer.Artificial cells, cell engineering and therapy is a valuable reference for researchers, students and practitioners within the field. - Introduces the basics of artificial cell technology - Provides a comprehensive study of the most recent advances in artificial cells, cell engineering and cell therapy - Discusses the design, engineering and uses of artificial cells
  enzyme replacement therapy for mps: Liver Disease in Children Frederick J. Suchy, Ronald J. Sokol, William F. Balistreri, 2007-05-07 Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.
  enzyme replacement therapy for mps: Therapeutic Enzymes: Function and Clinical Implications Nikolaos Labrou, 2019-09-03 Therapeutic enzymes exhibit fascinating features and opportunities, and represent a significant and promising subcategory of modern biopharmaceuticals for the treatment of several severe diseases. Research and drug developments efforts and the advancements in biotechnology over the past twenty years have greatly assisted the introduction of efficient and safe enzyme-based therapies for a range of both rare and common disorders. The introduction and regulatory approval of twenty different recombinant enzymes has enabled effective enzyme-replacement therapy. This volume aims to overview these therapeutic enzymes, focusing in particular on more recently approved enzymes produced by recombinant DNA technology. This volume is composed of four sections. Section 1 provides an overview of the production process and biochemical characterization of therapeutic enzymes, while Section 2 focuses upon the engineering strategies and delivery methods of therapeutic enzymes. Section 3 highlights the clinical applications of approved therapeutic enzymes, including aspects on their structure, indications and mechanisms of action. Together with information on these mechanisms, safety and immunogenicity issues and various adverse events of the recombinant enzymes used for therapy are discussed. Section 4, provides discussion on the prospective and future developments of new therapeutic enzymes. This book is aimed at academics, researchers and students undertaking advanced undergraduate/postgraduate programs in the biopharmaceutical/biotechnology area who wish to gain a comprehensive understanding of enzyme-based therapeutic molecules.
  enzyme replacement therapy for mps: Challenging Cases in Dermatology Volume 2 Mohammad Ali El-Darouti, Faiza Mohamed Al-Ali, 2019-08-28 This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases.
  enzyme replacement therapy for mps: The Neuronal Ceroid Lipofuscinoses (Batten Disease) Sara Mole, Ruth Williams, Hans Goebel, 2011-03-10 The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
  enzyme replacement therapy for mps: Encyclopedia of Ophthalmology Ursula Schmidt-Erfurth, Thomas Kohnen (Dr. med.),
  enzyme replacement therapy for mps: Newborn Screening for Pompe Disease Wuh-Liang Hwu, Yin-Hsiu Chien, Raymond Wang, 2021-09-02 Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
  enzyme replacement therapy for mps: Pediatric Pharmacotherapy Wieland Kiess, Matthias Schwab, Johannes van den Anker, 2020-07-15 This volume provides readers with the most updated scientific information on the efficacy and safety of medicines for children and adolescents. The book enriches the understanding of pediatric pharmacotherapy for health professionals, regulatory agencies, pharmaceutical companies and learned societies. It contains important information on the pharmacodynamics and pharmacokinetics of drugs. It summarizes the latest investigations on the effects of pharmacological treatments in relation to and dependent on age, gender, fat mass and disease status. Therefore and importantly, this volume reviews the latest data on how pharmacotherapy has to be adjusted and personalized in regards to stages of development and during the pediatric lifespan from neonate through adolescence. In addition, the topic of rare diseases and special challenges for pharmacotherapy will be included and will provide readers with the necessary knowledge to handle complex diseases and treatment strategies especially in relation to pharmacotherapy of rare and orphan diseases.
  enzyme replacement therapy for mps: Lysosomal Storage Disorders Atul B. Mehta, Bryan Winchester, 2012-09-06 The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance • Mehta • ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273
  enzyme replacement therapy for mps: Laboratory Guide to the Methods in Biochemical Genetics Nenad Blau, Marinus Duran, K. Michael Gibson, 2008-05-31 This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
  enzyme replacement therapy for mps: Techniques in Diagnostic Human Biochemical Genetics Frits A. Hommes, 1991 Here is an up-to-date review of procedures currently in use in diagnostic biochemical genetics laboratories around the world. Offers not only accounts of methodology but also provides guidelines for the interpretation of both standard and abnormal results. The text includes coverage of most of the methods being employed to determine specific analyses as well as discussions of statistics and data management and the protocols of transmitting laboratory results with genetic information. Many of the chapters contain introductory sections describing background information on the development of a particular genetic test and an evaluation of the clinical significance and applicability of the test.
  enzyme replacement therapy for mps: Pulmonary Function Testing in Children: Techniques and Standards George Polgar, Promadhat Varuni, 1971
  enzyme replacement therapy for mps: Essentials of Audiology Stanley A. Gelfand, 1997-01-01
  enzyme replacement therapy for mps: Inherited Metabolic Diseases Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, 2009-11-21 The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
  enzyme replacement therapy for mps: Enzymes as Drugs John S. Holcenberg, Joseph Roberts, 1981
  enzyme replacement therapy for mps: Inborn Metabolic Diseases K. Tada, N.R.M. Buist, John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2013-03-14 Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
  enzyme replacement therapy for mps: Lashley's Essentials of Clinical Genetics in Nursing Practice Christine E. Kasper, PhD, RN, FAAN, Tonya Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC, CNE, CHSE-A, ANEF, FAAN, Felissa R. Lashley, PhD, RN, FABMGG, 2015-09-16 Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students
  enzyme replacement therapy for mps: Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases N. Blau, M. Duran, M.E. Blaskovics, K.M. Gibson, 2012-12-06 This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
  enzyme replacement therapy for mps: A Rare Breed Daniel S. Levine, Daniel P. Maher, 2017-08-15 BioMarin Pharmaceutical Inc., named by Forbes magazine as one of the world¿s ten most innovative companies, is a world leader in developing therapies to treat rare orphan genetic diseases. A Rare Breed recounts the first 20 years of its history, the struggles it faced in developing drugs for diseases that represented markets most pharmaceutical companies saw as too small to pursue, and how it grew into a global enterprise valued at more than $16 billion. It follows the researchers, patients, and executives who played a role in taking novel ideas forward and how they overcame scientific, regulatory, and financial challenges to bring breakthrough therapies to children who needed them.
  enzyme replacement therapy for mps: Bayley Scales of Infant and Toddler Development Nancy Bayley, 2006
  enzyme replacement therapy for mps: Behavioural Phenotypes Gregory O'Brien, William Yule, 1995 Increasing interest over recent years in the study of the influences of environment and genetic factors on behavioural disorder has come from a wide range of disciplines. These studies have subsequently been focused through the foundation of the Society for the Study of Behavioural Phenotypes, which forms the basis for assimilating new information and coordinating future research in this field. This volume from founder members of the society presents a distillation of thinking and reviews appropriate measurement schedules. Including research findings, explanation of concepts, genetic scientific techniques and methodological issues, this work will be welcomed by those with an interest in behavioural disorder at every level.
  enzyme replacement therapy for mps: Hematopoietic Stem Cell Therapy Edward David Ball, Ping Law, 2000 This book will be the only current practical guide to a widely used procedure for treating leukemias and disseminated cancers. The contents are organized chronologically, to serve as a step-by-step guide throughout the transplant process. Comprehensive yet concise, it emphasizes the latest techniques, such as peripheral blood stem cell grafts.
  enzyme replacement therapy for mps: Lysosomal Disorders of the Brain Steven U. Walkley, 2004 Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early infancy or childhood. In recent yearsconsiderable progress has been made in understanding the molecular mechanisms that lead to disordered function of the lysosomal system and to lysosomal storage. Unravelling the basis for these diseases is providing unique insight into the normal biology of cells and pointing the way to thedevelopment of therapeutic strategies for their treatment. Lysosomal Disorders of Brain details recent advances in the molecular and cellular pathologies of these diseases and in the development of effective therapies. After an overview of the biology of the endosomal-lysosomal system and the types of diseases resulting from defects in this system, thebook describes in detail the molecular mechanisms of storage, model systems and pathophysiological mechanisms, and finally, new advances toward treatment. With each chapter written by leading experts in their field, this book will be valuable for scientists and clinicians in helping them understandthe role of lysosomes in normal cells and mechanisms underlying these disorders, how they can be diagnosed, and the treatment options that are currently available.
  enzyme replacement therapy for mps: Principles and Practice of Mechanical Ventilation Martin J. Tobin, 2010-06-06 Audience: Critical Care Physicians, Pulmonary Medicine Physicians; Respiratory Care Practitioners; Intensive Care Nurses Author is the most recognized name in Critical Care Medicine Technical and clinical developments in mechanical ventilation have soared, and this new edition reflects these advances Written for clinicians, unlike other books on the subject which have primarily an educational focus
Enzyme replacement therapy for mucopolysaccharidoses; …
Enzyme replacement therapy (ERT) has been the standard therapeutic option for some types of MPS because of the …

Current and new therapies for mucopolysaccharidoses
In this review, we summarize the three different modalities for MPS therapy: hematopoietic stem cell transplantation …

Medical Therapies for Enzyme Deficiencies Commercial Me…
Aldurazyme (laronidase) is proven for the treatment of mucopolysaccharidosis I (MPS I). Aldurazyme is medically …

Update of treatment for mucopolysaccharidosis typ…
Enzyme replacement therapy (ERT) MPS III was caused by deficiency of enzymes, so ERT, compensation for abnormal …

MEDICAL POLICY - ENZYME REPLACEMENT THERAPY F…
Enzyme replacement (ERT) and stem cell transplant (SCT) are the only treatment options for MPS type VI. Naglazyme is …

Enzyme Replacement Therapy for Lysosomal Storage Disor…
Aldurazyme (laronidase) is indicated for adult and pediatric patients with Hurler and Hurler-Scheie forms of …

Consensus statement on enzymes replacement therap…
The consensus statement was focused mainly on initia-tion and follow up of enzyme replacement therapy for MPS …

Management of mucopolysaccharidosis typ…
In 2003, the FDA approved laronidase (Aldurazyme) as an enzyme replacement therapy (ERT) for MPS-I. Laro-nidase …

Journal of Health Economics and Outcomes Research
Patients with MPS II experience a high disease burden, leading to extensive healthcare resource utilization (HRU) and reduced quality of life. Obectives: fiis study aimed to assess the impact …

Black Box Warnings. Please refer to individual prescribing …
Enzyme Replacement Therapy (ERT) For Treatment of Mucopolysaccharidosis (MPS) The Louisiana Uniform Prescription Drug Prior Authorization Form should be utilized to request …

Canadian Consensus Position Statement for the Diagnosis and …
enzyme replacement therapy (ERT) improved the management of MPS II, and led to the development of treatment guidelines. However, ... MPS I and MPS II excrete increased …

Natural history of valve disease in patients with …
valve replacement is needed. Intravenous enzyme replacement therapy (ERT) with idursulfase (Elaprase®; Shire [a Takeda company], Lexington, Massachusetts, USA) became available for …

Interim Analysis From a Phase 1/2 Study of Weekly …
DNL310 (Brain-Penetrant Enzyme Replacement Therapy) in MPS II Barbara Burton, MD Professor of Pediatrics (Genetics, Genomics, and Metabolism) ... He is the principal …

Enzyme Replacement Therapy for Lysosomal Storage …
Enzyme Replacement Therapy for Lysosomal Storage Disorders (MPS I, VI) [Aldurazyme, Naglazyme] ... presentation and biochemically by their associated enzyme deficiency. MPS …

Liver-Directed Adeno-Associated Virus–Mediated Gene …
Jun 6, 2022 · Enzyme replacement therapy (ERT) is available but requires life-long and costly intravenous infusions; moreover, it has limited efficacy on diseased skeleton and cardiac …

Enzyme replacement therapy: efficacy and - BioMed Central
Keywords: Enzyme replacement therapy, ERT, Mucopolysaccharidosis, MPS Background Enzyme replacement therapy (ERT), based on the periodic intravenous administration of …

Hypersensitivity reactions and enzyme replacement therapy: …
Nov 4, 2021 · Enzyme replacement therapy (ERT) is the most important therapeutic strategy for MPS patients, slowing the disease pro-gression, ameliorating the symptoms, and improving …

ENZYME REPLACEMENT THERAPY IN …
ERT Enzyme replacement therapy GAG Glycosaminoglycan(s) MPS Mucopolysaccharidosis rhASB Recombinant human N-acetylgalactosamine 4-sulfatase T ½ Elimination half-life 574. …

Louisiana Medicaid For Treatment of Mucopolysaccharidosis …
Enzyme Replacement Therapy (ERT) For Treatment of Mucopolysaccharidosis (MPS) The Louisiana Uniform Prescription Drug Prior Authorization Form should be utilized to request …

Difficulties Associated with Enzyme Replacement Therapy …
Methods: A questionnaire about demographics, enzyme replacement therapy-related charac - teristics, and specific enzyme replacement therapy-related difficulties was conducted over the …

Disease Overview UTILIZATION MANAGEME
diagnosis of MPS VI is established by demonstrating deficient arylsulfatase B enzyme activity in leukocytes or fibroblasts, or by genetic testing.2,3 Definitive treatment of MPS VI consists of …

Hunter Syndrome - National MPS Society
Enzyme replacement therapy (ERT) Individuals with MPS have a deficiency in certain enzymes that break down GAGs, leading to their buildup in the cells of various organs. Given by an …

REVISION DATE: 02/2024 PAGE NUMBER: 1 of 4
MPS Enzyme Replacement POLICY NUMBER: RX.PA.021.MPC REVISION DATE: 02/2024 PAGE NUMBER: 2 of 5 body. Hunter Syndrome affects males almost exclusively. …

MOH/P/PAK/216.11(GU) - Ministry of Health
as chaperone therapy and gene therapy are currently under preclinical investigations. Currently ERT are available for MPS I, II, VI, Fabry, Pompe and Gaucher diseases. In addition SRT has …

Long-term experience with enzyme replacement therapy …
inform the use of enzyme replacement therapy (ERT) in patients with the severe (neuropathic) phenotype of mucopolysaccharidosis II (MPS II). Current guidelines rec-ommend ERT …

NIH Public Access M.C. Peinovich T. Lester S.Q. Le, and
Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs M.B. Passage, A.W. Krieger, M.C. Peinovich, T. Lester, S.Q. Le, and P.I. Dickson Division of …

Evidence of Early Bone Response After Initiation of ERT in a 3 …
preliminary evidence that enzyme replacement therapy may stimulate bone formation. • Based on historical studies in MPS animal models, the early initiation of enzyme replacement therapy …

Enzyme replacement therapy interruption in MPS IVA …
MPS IVA patients usually present skeletal dysplasia, coarse features, short stature, air-way obstruction, cervical spinal cord compression, dental abnormalities, and cardiac valvular …

Enzyme Replacement Therapy For Mps - origin …
Enzyme Replacement Therapy For Mps enzyme replacement therapy for mps: The Blood-brain Barrier William M. Pardridge, 1993 The characterization of the blood-brain barrier (BBB) is …

N-glycan-modified α-L-iduronidase produced by transgenic …
intravenous enzyme replacement therapy in a Japanese macaque MPS I non-human primate model carrying a homozygous IDUA missense mutation. Results Here we show the …

Preliminary safety and pharmacodynamic response data from …
novel enzyme replacement therapy for the treatment of Sanfilippo Syndrome Type B (MPS IIIB) Nicole Muschol. 1,Maureen Cleary. 2, Maria Luz Couce. 3, Adam J. Shaywitz. 4, Heather …

Evaluation of galsulfase for the treatment of …
enzyme replacement therapy can differ greatly between patients and may to some extent relate to the genotype. Nevertheless, antibody formation seems to have little impact on clinical outcome …

Impact of early enzyme-replacement therapy for …
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme arylsulfatase B …

Hunter Syndrome/MPS II – FDA-Requested Listening Session
Feb 4, 2020 · Management of MPS II and/or its symptoms: Enzyme Replacement Therapy, physical, speech, behavioral, and/or occupational therapy, hearing aids, medication, carpal …

Newborn Screening ACT Sheet [Iduronate 2-Sulfatase …
Condition Description: Mucopolysaccharidosis Type II (MPS II, also known as Hunter syndrome), and multiple sulfatase deficiency (MSD), are lysosomal disorders. MPS II is caused by an …

Enzyme Replacement Therapy for Lysosomal Storage …
CONTINUATION OF THERAPY: A. MUCOPOLYSACCHARIDOSIS (MPS): 1. Prescriber attests to or clinical reviewer has found that requested ERT remains for use as monotherapy: NOT to …

EFFECTIVE DATE LAST REVISION DATE OVERAGE RITERIA FOR
Definitive treatment of MPS II consists of enzyme replacement therapy with Elaprase.2-4,6 Hematopoietic stem cell transplantation has not demonstrated clear neurological benefit to …

Newborn Screening for Mucopolysaccharidosis Type II
Enzyme replacement therapy (ERT) ERT is the main treatment for MPS II. It is the only treatment for MPS II approved by the US Food and Drug Administration (FDA). People who need ERT …

POLICY Enzyme Replacement Therapy - CareSource
Mar 26, 2025 · abnormalities.2-4 MPS IVA has not been associated with cognitive decline.2 The definitive diagnosis of MPS IVA is established by demonstrating deficient N …

Mucopolysaccharidoses Diagnosis in the Era of Enzyme …
The Choices of treatment include bone marrow transplantation (HSCT) in MPS I, II, III, IV 3 and VI and enzyme replacement therapy (ERT) , which is developed and licensed from the beginning …

MPS VI biomarker Feb. 2018
Feb 26, 2018 · Data confirm highly promising biomarker for MPS VI and limited enzyme replacement therapy (ERT) efficacy in reducing leukoGAGs Daix (France), February 26, 2018 …

Impact of intracerebroventricular enzyme replacement …
enzyme activity, and group NT is considered to have null type muta-tions, such as deletions, recombination with pseudogene, and nonsense mutations.4 The patients in group NT show a …

Newborn Screening for MPS I - Health Resources and …
Jun 27, 2018 · Enzyme Replacement Therapy (ERT) ERT restores IDUA activity using a man-made version of the missing enzyme. People who need ERT undergo a 4-hour treatment …

A Genetic Model of Substrate Reduction Therapy for …
glycosaminoglycan biosynthesis. Compounds thought to non-specifically affect glycosaminoglycan biosynthesis such as rho-damine B and genistein appear to reduce …

Enzyme replacement with transferrin receptor-targeted α-L …
Original Article Enzyme replacement with transferrin receptor-targeted a-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice Sachiho Kida, 1Yuri Koshimura, Eiji Yoden, …

Survival, Cardiac, and Pulmonary Outcomes in Individuals with ...
disease and restrictive lung disease.4 Furthermore, if left untreated, MPS I causes early mortality in severe and attenuated forms.5 •Recombinant human α-L-iduronidase (laronidase), an …

Enzyme Replacement Therapy for Lysosomal Storage …
Enzyme Replacement Therapy for Lysosomal Storage Disorders (MPS I, VI) [Aldurazyme, Naglazyme] ... presentation and biochemically by their associated enzyme deficiency. MPS …

Gasser cell: A biomarker of response to enzyme replacement …
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Mucopolysaccharidoses diagnosis in the era of enzyme …
Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD). The quantification of a specific enzymatic activity is needed for accurate diagnosis. The …

UTILIZATION MANAGEMENT MEDICAL POLICY
definitive diagnosis of MPS II is established by demonstrating deficient iduronate-2-sulfatase activity in leukocytes, fibroblasts, serum, or plasma; or mutations in the iduronate-2-sulfatase …

Enzyme replacement therapy: efficacy and - Springer
Keywords: Enzyme replacement therapy, ERT, Mucopolysaccharidosis, MPS Background Enzyme replacement therapy (ERT), based on the periodic intravenous administration of …

Articles Clinical Investigation - Nature
a common complication of i.v. enzyme replacement therapy, and MPS I patients receiving i.v. rhIDU often develop serum anti-rhIDU IgG antibodies (18). These patients generally do

UNDERSTANDING - ELAPRASE
in MPS II patients aged 5–31 years. 2006 1990–2000 Development of idursulfase, a purified form of the human I2S enzyme produced by recombinant DNA technology in a continuous human …

Enzyme Replacement Therapy – Mepsevii - Cigna
Enzyme Replacement Therapy – Mepsevii ... MPS VII or Sly syndrome is an extremely rare lysosomal storage disorder characterized by deficient GUS activity. 2; In MPS VII, the partially …

Naglazyme, INN-Galsulfase - European Medicines Agency
MPS VI. Despite these interventions, MPS VI remains a serious and progressive disease producing profound disability that is fatal in most cases. Galsulfase is a recombinant human N …

Impact of early enzyme-replacement therapy for …
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme arylsulfatase B …