Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with id...

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Autores principales:	Kazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, Takashi Hamazaki, Sairei So, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Hiroyuki Sonoda, Yuji Sato
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	enzyme replacement therapy Hunter syndrome idursulfase mucopolysaccharidosis II neurocognitive development pabinafusp alfa Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/dd2fb638d2424084942f95fea4b0ba8a
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spelling	oai:doaj.org-article:dd2fb638d2424084942f95fea4b0ba8a2021-11-08T13:27:18ZDivergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report2192-831210.1002/jmd2.12239https://doaj.org/article/dd2fb638d2424084942f95fea4b0ba8a2021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12239https://doaj.org/toc/2192-8312Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with idursulfase, but because the enzyme cannot cross the blood‐brain‐barrier (BBB), it does not address the progressive neurodegeneration and subsequent central nervous system (CNS) manifestations seen in patients with neuropathic MPS‐II. However, pabinafusp alfa, a human iduronate‐2‐sulfatase (IDS) fused with a BBB‐crossing anti‐transferrin receptor antibody, has been shown to be efficacious against both the somatic and CNS symptoms of MPS II. We report two cases of MPS‐II in Japanese siblings sharing the same G140V mutation in the IDS gene, who showed markedly contrasting developmental trajectories following enzyme replacement therapy (ERT). Sibling 1 was diagnosed at 2 years of age, started undergoing conventional ERT shortly afterward, and scored a developmental quotient (DQ) of 53 on the Kyoto Scale of Psychological Development (KSPD) at 4 years of age. Sibling 2 was diagnosed prenatally and received conventional ERT from the age of 1 month through 1 year and 11 months, when he switched to pabinafusp alpha. He attained a DQ of 104 at age 3 years and 11 months, along with significant declines in heparan sulfate concentrations in the cerebrospinal fluid. This marked difference in neurocognitive development highlights the importance of early initiation of ERT with a BBB‐penetrating enzyme in patients with neuropathic MPS‐II.Kazuyoshi TomitaShungo OkamotoToshiyuki SetoTakashi HamazakiSairei SoTatsuyoshi YamamotoKazunori TanizawaHiroyuki SonodaYuji SatoWileyarticleenzyme replacement therapyHunter syndromeidursulfasemucopolysaccharidosis IIneurocognitive developmentpabinafusp alfaDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 9-14 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	enzyme replacement therapy Hunter syndrome idursulfase mucopolysaccharidosis II neurocognitive development pabinafusp alfa Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	enzyme replacement therapy Hunter syndrome idursulfase mucopolysaccharidosis II neurocognitive development pabinafusp alfa Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Kazuyoshi Tomita Shungo Okamoto Toshiyuki Seto Takashi Hamazaki Sairei So Tatsuyoshi Yamamoto Kazunori Tanizawa Hiroyuki Sonoda Yuji Sato Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
description	Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with idursulfase, but because the enzyme cannot cross the blood‐brain‐barrier (BBB), it does not address the progressive neurodegeneration and subsequent central nervous system (CNS) manifestations seen in patients with neuropathic MPS‐II. However, pabinafusp alfa, a human iduronate‐2‐sulfatase (IDS) fused with a BBB‐crossing anti‐transferrin receptor antibody, has been shown to be efficacious against both the somatic and CNS symptoms of MPS II. We report two cases of MPS‐II in Japanese siblings sharing the same G140V mutation in the IDS gene, who showed markedly contrasting developmental trajectories following enzyme replacement therapy (ERT). Sibling 1 was diagnosed at 2 years of age, started undergoing conventional ERT shortly afterward, and scored a developmental quotient (DQ) of 53 on the Kyoto Scale of Psychological Development (KSPD) at 4 years of age. Sibling 2 was diagnosed prenatally and received conventional ERT from the age of 1 month through 1 year and 11 months, when he switched to pabinafusp alpha. He attained a DQ of 104 at age 3 years and 11 months, along with significant declines in heparan sulfate concentrations in the cerebrospinal fluid. This marked difference in neurocognitive development highlights the importance of early initiation of ERT with a BBB‐penetrating enzyme in patients with neuropathic MPS‐II.
format	article
author	Kazuyoshi Tomita Shungo Okamoto Toshiyuki Seto Takashi Hamazaki Sairei So Tatsuyoshi Yamamoto Kazunori Tanizawa Hiroyuki Sonoda Yuji Sato
author_facet	Kazuyoshi Tomita Shungo Okamoto Toshiyuki Seto Takashi Hamazaki Sairei So Tatsuyoshi Yamamoto Kazunori Tanizawa Hiroyuki Sonoda Yuji Sato
author_sort	Kazuyoshi Tomita
title	Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
title_short	Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
title_full	Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
title_fullStr	Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
title_full_unstemmed	Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
title_sort	divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type ii (hunter syndrome) receiving conventional and novel enzyme replacement therapies: a case report
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/dd2fb638d2424084942f95fea4b0ba8a
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Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

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