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Personalized Medicine in Rare Pediatric Neurometabolic Diseases

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Book cover Neurodegenerative Diseases: Integrative PPPM Approach as the Medicine of the Future

Part of the book series: Advances in Predictive, Preventive and Personalised Medicine ((APPPM,volume 2))

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Abstract

Enormous advances in life sciences and molecular biology mean that research today generates massive amounts of data that can potentially serve to advance the development of individualized therapies. Such treatments are based on the principles of disease prevention, prediction, early diagnosis and reliable monitoring of therapeutic efficacy with the goal of providing personalized treatments that improve the health of individuals. The development of personalized medicine is of considerable importance for pediatric patient populations, and represents a move away from the use of treatment dosages based on experience with the same compounds in adults. Currently, however, we know little about developmental pharmacogenomics and, although many biomarkers are available for use in clinical research, there have been few applications in the management of pediatric diseases. This chapter reviews the requirements for pediatric personalized medicine and describes a group of diseases that require such an approach. Personalized medicine is particularly relevant for the treatment of rare childhood diseases, and the group of life-threatening neurological diseases known as lysosomal storage diseases (LSDs) represents a potential study population. The genetic bases of these disorders are generally well defined, there is the potential for diagnosis at birth or prenatally, and there are several therapeutic options available or under development.

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Abbreviations

ADRs:

Adverse Drug Reactions

ALL:

Acute Lymphoblastic Leukaemia

CNS:

Central Nervous System

CPNDS:

Canadian Pharmacogenomics Network for Drug Safety

CYP:

Cytochrome P450

ERT:

Enzyme Replacement Therapy

EU:

European Union

HLA:

Human Leukocyte Antigen

LSDs:

Lysosomal Storage Diseases

SRT:

Substrate Reduction Therapy

TEDDY:

Task force in Europe for Drug Development for the Young

TPMT:

Thiopurine methyltransferase

UGT:

UDP-glucuronosyltransferase

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Acknowledgements

The authors would like to thank all of the members of the Brains for Brain Foundation and in particular the patients and families affected by lysosomal storage disorders; Harriet Crofts (Oxford PharmaGenesis Ltd, Tubney, Oxfordshire, UK) for kindly revising the manuscript.

Medical writing support to the authors for the original manuscript on which this book chapter is based (Scarpa et al. [47]) was sponsored by Shire HGT. The sponsor had no influence on the contents or direction of that manuscript. The authors take full responsibility for the content of the paper.

Conflict of interest Maurizio Scarpa has received research grants, honoraria and travel support for speaking engagements from Actelion, Shire HGT, Genzyme Corporation and BioMarin. David Begley has received research grants, honoraria and travel support for speaking engagements from Actelion, Shire HGT, Genzyme Corporation, BioMarin and GlaxoSmithKline. Adriana Ceci, Rosella Tomanin, Cinzia Maria Bellettato, Francesca D’Avanzo and Alessandra Zanetti have no conflicts of interest.

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Authors and Affiliations

  1. Women’s and Children’s Health Department, University of Padova, Via Giustiniani 3, 35128, Padova, Italy

    Rosella Tomanin, Cinzia Maria Bellettato, Francesca D’Avanzo, Alessandra Zanetti & Maurizio Scarpa

  2. Gianni Benzi Pharmacological Research Foundation Onlus, Valenzano, Bari, Italy

    Adriana Ceci

  3. King’s College London, London, UK

    David Begley

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  1. Rosella Tomanin
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  2. Cinzia Maria Bellettato
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  7. Maurizio Scarpa
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Correspondence to Maurizio Scarpa .

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  1. , Molecular Pharmacology, Technion, Institute of Technology, Efron, Haifa, 31096, Israel

    Silvia Mandel

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Tomanin, R. et al. (2013). Personalized Medicine in Rare Pediatric Neurometabolic Diseases. In: Mandel, S. (eds) Neurodegenerative Diseases: Integrative PPPM Approach as the Medicine of the Future. Advances in Predictive, Preventive and Personalised Medicine, vol 2. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-5866-7_14

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