TY - JOUR
T1 - Emerging drugs for the treatment of mucopolysaccharidoses
AU - Giugliani, Roberto
AU - Federhen, Andressa
AU - Vairo, Filippo
AU - Vanzella, Cláudia
AU - Pasqualim, Gabriela
AU - Da Silva, Letícia Machado Rosa
AU - Giugliani, Luciana
AU - De Boer, Ana Paula Kurz
AU - De Souza, Carolina Fishinger Moura
AU - Matte, Ursula
AU - Baldo, Guilherme
N1 - Publisher Copyright:
© 2016 Taylor & Francis.
PY - 2016/1/2
Y1 - 2016/1/2
N2 - Introduction: Despite being reported for the first time almost one century ago, only in the last few decades effective have treatments become available for the mucopolysaccharidoses (MPSs), a group of 11 inherited metabolic diseases that affect lysosomal function. These diseases are progressive, usually severe, and, in a significant number of cases, involve cognitive impairment. Areas covered: This review will not cover established treatments such as bone marrow/hematopoietic stem cell transplantation and classic intravenous enzyme replacement therapy (ERT), whose long-term outcomes have already been published (MPS I, MPS II, and MPS VI), but it instead focuses on emerging therapies for MPSs. That includes intravenous ERT for MPS IVA and VII, intrathecal ERT, ERT with fusion proteins, substrate reduction therapy, gene therapy, and other novel approaches. Expert opinion: The available treatments have resulted in improvements for several disease manifestations, but they still do not represent a cure for these diseases; thus, it is important to develop alternative methods to approach the unmet needs (i.e. bone disease, heart valve disease, corneal opacity, and central nervous system (CNS) involvement). The work in progress with novel approaches makes us confident that in 2017, when MPS will commemorate 100 years of its first report, we will be much closer to an effective cure for these challenging conditions.
AB - Introduction: Despite being reported for the first time almost one century ago, only in the last few decades effective have treatments become available for the mucopolysaccharidoses (MPSs), a group of 11 inherited metabolic diseases that affect lysosomal function. These diseases are progressive, usually severe, and, in a significant number of cases, involve cognitive impairment. Areas covered: This review will not cover established treatments such as bone marrow/hematopoietic stem cell transplantation and classic intravenous enzyme replacement therapy (ERT), whose long-term outcomes have already been published (MPS I, MPS II, and MPS VI), but it instead focuses on emerging therapies for MPSs. That includes intravenous ERT for MPS IVA and VII, intrathecal ERT, ERT with fusion proteins, substrate reduction therapy, gene therapy, and other novel approaches. Expert opinion: The available treatments have resulted in improvements for several disease manifestations, but they still do not represent a cure for these diseases; thus, it is important to develop alternative methods to approach the unmet needs (i.e. bone disease, heart valve disease, corneal opacity, and central nervous system (CNS) involvement). The work in progress with novel approaches makes us confident that in 2017, when MPS will commemorate 100 years of its first report, we will be much closer to an effective cure for these challenging conditions.
KW - Mucopolysaccharidoses
KW - emerging treatments
KW - enzyme replacement therapy
KW - gene therapy
KW - glycosaminoglycans
KW - lysosomal storage diseases
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U2 - 10.1517/14728214.2016.1123690
DO - 10.1517/14728214.2016.1123690
M3 - Review article
C2 - 26751109
AN - SCOPUS:84959544287
SN - 1472-8214
VL - 21
SP - 9
EP - 26
JO - Expert Opinion on Emerging Drugs
JF - Expert Opinion on Emerging Drugs
IS - 1
ER -