Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)
Roberto Giugliani, Ana Carolina Brusius-Facchin, Carolina Fischinger Moura De Souza, Gabriel Civallero, Maira Burin, Sandra Leistner-Segal, Guilherme Baldo, Filippo Vairo
Introduction: Hunter syndrome (Mucopolysaccharidosis II, MPS II) is a lysosomal storage disease inherited as an X-linked trait. The disease is progressive, affects multiple systems and is clinically heterogeneous. Patients with the so-called 'attenuated' form have somatic manifestations affecting bone, joints, respiratory, cardiac, auditory and other systems. Patients with the 'severe form' have, in addition to the somatic manifestations, neurocognitive decline.Areas covered: Diagnosis is reached with biochemical tests (urinary glycosaminoglycans [GAGs] and enzyme assay), usually complemented with genetic analysis. Mutation identification could play a role in phenotype prediction and could help to identify carriers, which is very important in an X-linked disease. Specific treatment with enzyme replacement therapy (ERT) became available few years ago and improved significantly the natural course of the disease. However, treatment with intravenous ERT has limitations, and the possibility of alternative therapies such as hematopoietic stem cell transplantation and substrate reduction therapy with genistein is being considered. Novel therapies mainly designed to address the CNS manifestations (intrathecal ERT, ERT with fusion proteins, gene therapy and others) are also in development.Expert opinion: The combination of effective therapies with early diagnosis (newborn screening is feasible and could be available shortly) could completely change the prospect for MPS II patients in few years.
Expert Opinion on Orphan Drugs
https://doi.org/10.1517/21678707.2015.999666
Published - Feb 1 2015
Enzyme replacement therapy
Hunter syndrome
Lysosomal storage diseases
Mucopolysaccharidosis II
Dive into the research topics of 'Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)'. Together they form a unique fingerprint.
Mucopolysaccharidosis II Medicine & Life Sciences 100%
Enzyme Replacement Therapy Medicine & Life Sciences 69%
Lysosomal Storage Diseases Medicine & Life Sciences 18%
X-Linked Genes Medicine & Life Sciences 16%
Genistein Medicine & Life Sciences 15%
Neonatal Screening Medicine & Life Sciences 15%
Enzyme Assays Medicine & Life Sciences 15%
Hematopoietic Stem Cell Transplantation Medicine & Life Sciences 14%
Giugliani, R., Brusius-Facchin, A. C., Moura De Souza, C. F., Civallero, G., Burin, M., Leistner-Segal, S., Baldo, G., & Vairo, F. (2015). Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome). Expert Opinion on Orphan Drugs, 3(2), 141-150. https://doi.org/10.1517/21678707.2015.999666
Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome). / Giugliani, Roberto; Brusius-Facchin, Ana Carolina; Moura De Souza, Carolina Fischinger; Civallero, Gabriel; Burin, Maira; Leistner-Segal, Sandra; Baldo, Guilherme; Vairo, Filippo.
In: Expert Opinion on Orphan Drugs, Vol. 3, No. 2, 01.02.2015, p. 141-150.
Giugliani, R, Brusius-Facchin, AC, Moura De Souza, CF, Civallero, G, Burin, M, Leistner-Segal, S, Baldo, G & Vairo, F 2015, 'Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)', Expert Opinion on Orphan Drugs, vol. 3, no. 2, pp. 141-150. https://doi.org/10.1517/21678707.2015.999666
Giugliani R, Brusius-Facchin AC, Moura De Souza CF, Civallero G, Burin M, Leistner-Segal S et al. Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome). Expert Opinion on Orphan Drugs. 2015 Feb 1;3(2):141-150. https://doi.org/10.1517/21678707.2015.999666
Giugliani, Roberto ; Brusius-Facchin, Ana Carolina ; Moura De Souza, Carolina Fischinger ; Civallero, Gabriel ; Burin, Maira ; Leistner-Segal, Sandra ; Baldo, Guilherme ; Vairo, Filippo. / Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome). In: Expert Opinion on Orphan Drugs. 2015 ; Vol. 3, No. 2. pp. 141-150.
@article{d2e6bc98de434fe3b1ffdc2c62719c28,
title = "Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)",
abstract = "Introduction: Hunter syndrome (Mucopolysaccharidosis II, MPS II) is a lysosomal storage disease inherited as an X-linked trait. The disease is progressive, affects multiple systems and is clinically heterogeneous. Patients with the so-called 'attenuated' form have somatic manifestations affecting bone, joints, respiratory, cardiac, auditory and other systems. Patients with the 'severe form' have, in addition to the somatic manifestations, neurocognitive decline.Areas covered: Diagnosis is reached with biochemical tests (urinary glycosaminoglycans [GAGs] and enzyme assay), usually complemented with genetic analysis. Mutation identification could play a role in phenotype prediction and could help to identify carriers, which is very important in an X-linked disease. Specific treatment with enzyme replacement therapy (ERT) became available few years ago and improved significantly the natural course of the disease. However, treatment with intravenous ERT has limitations, and the possibility of alternative therapies such as hematopoietic stem cell transplantation and substrate reduction therapy with genistein is being considered. Novel therapies mainly designed to address the CNS manifestations (intrathecal ERT, ERT with fusion proteins, gene therapy and others) are also in development.Expert opinion: The combination of effective therapies with early diagnosis (newborn screening is feasible and could be available shortly) could completely change the prospect for MPS II patients in few years.",
keywords = "Enzyme replacement therapy, Glycosaminoglycans, Hunter syndrome, Lysosomal storage diseases, Mucopolysaccharidosis II",
author = "Roberto Giugliani and Brusius-Facchin, {Ana Carolina} and {Moura De Souza}, {Carolina Fischinger} and Gabriel Civallero and Maira Burin and Sandra Leistner-Segal and Guilherme Baldo and Filippo Vairo",
doi = "10.1517/21678707.2015.999666",
journal = "Expert Opinion on Orphan Drugs",
T1 - Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)
AU - Giugliani, Roberto
AU - Brusius-Facchin, Ana Carolina
AU - Moura De Souza, Carolina Fischinger
AU - Civallero, Gabriel
AU - Burin, Maira
AU - Leistner-Segal, Sandra
AU - Baldo, Guilherme
AU - Vairo, Filippo
N2 - Introduction: Hunter syndrome (Mucopolysaccharidosis II, MPS II) is a lysosomal storage disease inherited as an X-linked trait. The disease is progressive, affects multiple systems and is clinically heterogeneous. Patients with the so-called 'attenuated' form have somatic manifestations affecting bone, joints, respiratory, cardiac, auditory and other systems. Patients with the 'severe form' have, in addition to the somatic manifestations, neurocognitive decline.Areas covered: Diagnosis is reached with biochemical tests (urinary glycosaminoglycans [GAGs] and enzyme assay), usually complemented with genetic analysis. Mutation identification could play a role in phenotype prediction and could help to identify carriers, which is very important in an X-linked disease. Specific treatment with enzyme replacement therapy (ERT) became available few years ago and improved significantly the natural course of the disease. However, treatment with intravenous ERT has limitations, and the possibility of alternative therapies such as hematopoietic stem cell transplantation and substrate reduction therapy with genistein is being considered. Novel therapies mainly designed to address the CNS manifestations (intrathecal ERT, ERT with fusion proteins, gene therapy and others) are also in development.Expert opinion: The combination of effective therapies with early diagnosis (newborn screening is feasible and could be available shortly) could completely change the prospect for MPS II patients in few years.
AB - Introduction: Hunter syndrome (Mucopolysaccharidosis II, MPS II) is a lysosomal storage disease inherited as an X-linked trait. The disease is progressive, affects multiple systems and is clinically heterogeneous. Patients with the so-called 'attenuated' form have somatic manifestations affecting bone, joints, respiratory, cardiac, auditory and other systems. Patients with the 'severe form' have, in addition to the somatic manifestations, neurocognitive decline.Areas covered: Diagnosis is reached with biochemical tests (urinary glycosaminoglycans [GAGs] and enzyme assay), usually complemented with genetic analysis. Mutation identification could play a role in phenotype prediction and could help to identify carriers, which is very important in an X-linked disease. Specific treatment with enzyme replacement therapy (ERT) became available few years ago and improved significantly the natural course of the disease. However, treatment with intravenous ERT has limitations, and the possibility of alternative therapies such as hematopoietic stem cell transplantation and substrate reduction therapy with genistein is being considered. Novel therapies mainly designed to address the CNS manifestations (intrathecal ERT, ERT with fusion proteins, gene therapy and others) are also in development.Expert opinion: The combination of effective therapies with early diagnosis (newborn screening is feasible and could be available shortly) could completely change the prospect for MPS II patients in few years.
KW - Enzyme replacement therapy
KW - Glycosaminoglycans
KW - Hunter syndrome
KW - Lysosomal storage diseases
KW - Mucopolysaccharidosis II
U2 - 10.1517/21678707.2015.999666
DO - 10.1517/21678707.2015.999666
JO - Expert Opinion on Orphan Drugs
JF - Expert Opinion on Orphan Drugs