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Fabry disease
Perspectives from 5 years of FOS
Mehta
Atul
Beck
Michael
Sunder-Plassmann
Gere
1
London,
2
Mainz,
3
Vienna,
Oxford PharmaGenesis
tm
Ltd
1-9033539-03-X
2006
© 2006 Oxford PharmaGenesis
TM
Table of Contents
Book Information
Foreword
Contributors
Preface
List of abbreviations
Section 1 General aspects of lysosomal storage diseases
Chapter 1 History of lysosomal storage diseases: an overview
Atul Mehta, Michael Beck, Aleš Linhart, Gere Sunder-Plassmann, and Urs Widmer
Introduction
Recognition of the lysosome as central to storage diseases
Treatment of LSDs
First description of Fabry disease
Conclusions
References
Chapter 2 Epidemiology of lysosomal storage diseases: an overview
Maria Fuller, Peter J Meikle, and John J Hopwood
Introduction
Genes and proteins
Incidence and prevalence
Burden of illness
Fabry disease
Newborn screening for Fabry disease and other LSDs
Conclusions
References
Chapter 3 Physiology of the lysosome
Paul Saftig
Introduction
Role of the lysosome in cell physiology
Role of lysosomal enzymes and membrane proteins
Trafficking of lysosomal enzymes
Enzyme replacement and chaperone therapies
Conclusions
Acknowledgements
References
Chapter 4 Cellular pathophysiology of lysosomal storage diseases
Volkmar Gieselmann
Introduction
Cellular pathophysiology
Effects of different mutations on pathophysiology
Factors influencing the clinical heterogeneity of LSDs
Conclusions
References
Chapter 5 Importance of glycosylation in enzyme replacement therapy
Soumeya Bekri
Introduction
Structure and synthesis of α-galactosidase A
Post-translational modifications
Glycosylation
References
Chapter 6 Animal models of lysosomal storage diseases: their development and clinical relevance
Mark E Haskins, Urs Giger, and Donald F Patterson
Introduction
The need for animal models
Gene knockout technology
Use of larger animal models
Clinical relevance to therapy
The α-galactosidase A knockout mouse
Conclusions
Acknowledgements
References
Chapter 7 General aspects of X-linked diseases
Dominique P Germain
Introduction
Random X-chromosome inactivation
Identification of X-linked inheritance
Identification of individuals heterozygous for X-linked diseases
Conclusions
References
Chapter 8 Laboratory diagnosis of lysosomal storage diseases
Soumeya Bekri
Introduction
Lysosomal enzyme function
Lysosome biogenesis
Heterogeneity of LSDs
Laboratory diagnosis of LSDs
Non-immune hydrops fetalis
Conclusions
References
Chapter 9 Biomarkers in lysosomal storage diseases
Timothy M Cox
Introduction
Categories of biomarker used in LSDs
Characteristics of ideal biomarkers for LSDs
Disease burden
New biomarkers for LSDs
Biomarkers in current use
Use of biomarkers in screening for LSDs
Discovery of new biomarkers for LSDs
Clinical evaluation of biomarkers
Conclusions
References
Chapter 10 Enzyme replacement therapy – a brief history
Elizabeth F Neufeld
Introduction
Corrective factors and recognition signals
Development of enzyme replacement therapy
References
Chapter 11 Regulatory framework for the treatment of orphan diseases
Rashmi R Shah
Introduction
Orphan drug legislation in the EU
Regulatory framework and processes in the EU
Five-year experience and achievements in the EU
Orphan drug legislation in the USA and Japan
Access and reimbursement
Conclusions
Acknowledgements
References
Useful websites for further information
Chapter 12 Role of patient support groups in lysosomal storage diseases
Christine Lavery, MBE
In the beginning
Making a difference
Advocacy and support
Fulfilling an educational role
Data collection
Lobbying and campaigning
Working in partnership
International collaboration
Conclusions
Reference
Patient support groups
Chapter 13 The patient's perspective of Fabry disease – a report from the German Fabry Patient Support Group
Ditmar Basalla
Introduction
Information from patients for patients
Information for physicians and specialized medical staff
Working at an international level
Outlook
References
Section 2 Development of FOS - the Fabry Outcome Survey
Chapter 14 Formal trials versus observational studies
Ravi Thadhani
Introduction
Randomized clinical trials
Need for observational studies to evaluate healthcare
Importance of outcomes databases
Conclusions
Acknowledgements
References
Chapter 15 Organization and technical aspects of FOS – the Fabry Outcome Survey
Elizabeth Hernberg-Ståhl
History and aims
Organization of FOS
Data capture
Patient questionnaires
The FOS system
Protecting patient privacy
Usability
Data quality
Patient management
Role of FOS in pharmacovigilance
Publications arising from FOS
Conclusions
References
Section 3 Fabry disease: clinical features and natural course
Chapter 16 Demographics of FOS – the Fabry Outcome Survey
Michael Beck
Patient demographics
Delay in diagnosis
Reported signs and symptoms in male and female patients
Children in FOS
Mortality
Enzyme replacement therapy
Conclusions
References
Chapter 17 Diagnosis of Fabry disease: the role of screening and case-finding studies
Gere Sunder-Plassmann and Manuela Födinger
Introduction
Who makes the diagnosis?
Screening and case-finding
Conclusions
References
Chapter 18 Biochemical and genetic diagnosis of Fabry disease
Bryan Winchester and Elisabeth Young
Biochemistry and structure of α-galactosidase A
Practical aspects of enzyme determination
Male patients with residual α-galactosidase activity
Prenatal diagnosis
Measurement of storage products
Methods of genetic diagnosis
Types of mutations/polymorphisms
Conclusions
Acknowledgements
References
Chapter 19 Natural history of Fabry disease
Atul Mehta and Urs Widmer
Classic Fabry disease
Fabry disease in women and children
Atypical variants of Fabry disease
Cause of death in Fabry disease
Conclusions
References
Chapter 20 The heart in Fabry disease
Aleš Linhart
Introduction
Pathogenesis of the cardiac involvement
Cardiac hypertrophy
LV function
Ischaemia and coronary events
Electrophysiological abnormalities and arrhythmias
Valvular involvement
Cardiac variant
Clinical symptoms
Treatment issues
Conclusions
References
Chapter 21 Renal manifestations of Fabry disease
Gere Sunder-Plassmann
Introduction
The progressive nature of renal involvement in patients with Fabry disease
Histopathology
Renal imaging
Renal replacement therapy in patients with Fabry disease
Conclusions
References
Chapter 22 Neurological manifestations of Fabry disease
Raphael Schiffmann and David F Moore
Vasculopathy and stroke
Peripheral neuropathy and hypohidrosis
Conclusions
References
Chapter 23 Nervous system manifestations of Fabry disease: data from FOS – the Fabry Outcome Survey
Lionel Ginsberg
Introduction
Ischaemic stroke
Vascular risk factors
Magnetic resonance imaging
Other CNS diseases
Peripheral neuropathy
Treatment
Conclusions and future prospects
References
Chapter 24 Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy
Olivier Lidove, Roland Jaussaud, and Sélim Aractingi
Introduction
Pathology of cutaneous lesions in Fabry disease
Sweating
Lymphoedema
Acroparaesthesia
Facial dysmorphia
Response to ERT
Conclusions
References
Chapter 25 Fabry disease and the ear
Annerose Keilmann, Stefan Hegemann, Guido Conti, and Daniel Hajioff
Introduction
Histopathology
Natural history of hearing loss in Fabry disease
Effects of ERT on hearing
Tinnitus
Vertigo
Conclusions
References
Chapter 26 Ophthalmological manifestations of Fabry disease
Andrea Sodi, Alex Ioannidis, and Susanne Pitz
Introduction
Common ocular findings
Occasional ocular findings
Prevalence and clinical significance of ocular manifestations
Enzyme replacement therapy
Future developments
Ocular manifestations in FOS –the Fabry Outcome Survey
Conclusions
References
Chapter 27 Pulmonary involvement in Fabry disease
John D Aubert and Frédéric Barbey
Historical background
Data from FOS
Potential mechanisms of airflow limitation in Fabry disease
Treatment
Future areas of research
Conclusions
References
Chapter 28 Gastrointestinal manifestations of Fabry disease
Satish Keshav
Introduction
Gastrointestinal features of Fabry disease
Pathophysiology
Natural course
Response to ERT
Outstanding questions
References
Chapter 29 Neuropsychiatric and psychosocial aspects of Fabry disease
Matthias J Müller
Introduction
Methods
Results
Discussion
Conclusions
References
Chapter 30 Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy
Patrick B Deegan, Frank Bähner, Miguel Barba, Derralynn A Hughes, and Michael Beck
Introduction
Evidence for the effects of Fabry disease in female patients
FOS data
Relationship between X-inactivation, enzyme levels and disease severity
ERT in females
Conclusions
References
Chapter 31 Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease
Uma Ramaswami, Rosella Parini, and Guillem Pintos-Morell
Introduction
Natural course of Fabry disease in children
FOS data
Discussion
Conclusions
References
Chapter 32 Measurement of disease severity and progression in Fabry disease
Catharina Whybra, Frank Bähner, and Karin Baron
Introduction
Mainz Severity Score Index
Development of a scoring system for use in FOS – the Fabry Outcome Survey
Discussion
Conclusions
References
Chapter 33 The genetic basis of Fabry disease
Andreas Gal, Ellen Schäfer, and Imke Rohard
Introduction
Classification and nomenclature of mutations
Polymorphisms and rare sequence variants of the GLA gene
The GLA gene and its mutations in Fabry disease
The gene product
References
Chapter 34 Genotype–phenotype correlation in Fabry disease
Markus Ries and Andreas Gal
Introduction
General and epidemiological considerations
Residual enzyme activity and phenotypic variants
Pharmacogenomics
Female heterozygotes
Genetic modifiers
Conclusions
Acknowledgements
References
Section 4 Selected aspects of the clinical management of Fabry disease
Chapter 35 A multidisciplinary approach to the care of patients with Fabry disease
Derralynn A Hughes, Sian Evans, Alan Milligan, Linda Richfield, and Atul Mehta
Introduction
The multidisciplinary team approach
Holistic care
Home therapy
Conclusions
Chapter 36 Development of enzyme replacement therapy for Fabry disease
Raphael Schiffmann and Roscoe O Brady
Introduction
ERT using agalsidase alfa
ERT using agalsidase beta
Conclusions
References
Chapter 37 Enzyme replacement therapy and the heart
Christoph Kampmann
Introduction
Potential of ERT in relation to cardiac involvement
Evidence of the benefits of ERT on cardiac manifestations
Conclusions
References
Chapter 38 Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: data from FOS – the Fabry Outcome Survey
Andreas Schwarting, Gere Sunder-Plassmann, Atul Mehta, and Michael Beck
Introduction
Difficulties with registry studies
Baseline characteristics of the patient cohort
Agalsidase alfa therapy and renal function
Discussion and conclusions
References
Chapter 39 Neurological effects of enzyme replacement therapy in Fabry disease
Raphael Schiffmann and David F Moore
Introduction
Effect of ERT on the vasculopathy of Fabry disease
Effect of ERT on the peripheral nervous system
Conclusions
References
Chapter 40 Effects of enzyme replacement therapy on pain and overall quality of life
Björn Hoffmann
Introduction
Pain in Fabry disease
QoL in Fabry disease
Considerations relating to pain reduction and improved HRQoL
Possible use of patient-reported outcomes as surrogate markers
Conclusions
References
Chapter 41 Safety of enzyme replacement therapy
Frédéric Barbey and Françoise Livio
Introduction
Definitions in FOS
Special reporting procedures in FOS
Results
Discussion
Conclusions
References
Chapter 42 Monitoring and follow-up of patients
Atul Mehta, Michael Beck, Aleš Linhart, and Gere Sunder-Plassmann
Introduction
Assessment of patients
Criteria for starting ERT
Follow-up of patients
Home therapy
Criteria for stopping treatment
Criteria for ERT in children under 18 years of age
Conclusions
References
Chapter 43 Possible future therapies for Fabry disease
Roscoe O Brady and Raphael Schiffmann
Introduction
Molecular chaperone therapy
Substrate reduction therapy
Gene editing
Gene therapy
Infusions of structurally modified α-galactosidase A
Therapies based on the downstream mechanism of disease
Conclusions
Acknowledgements
References
Chapter 44 Concluding remarks
Atul Mehta, Michael Beck, Aleš Linhart, and Gere Sunder-Plassmann
Copyright © 2006 Oxford PharmaGenesis
TM
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