Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Tanaka, Akemi; Okuyama, Torayuki; Suzuki, Yasuyuki; Sakai, Norio; Takakura, Hiromitsu; Sawada, Tomo; Tanaka, Toju; Otomo, Takanobu; Ohashi, Toya; Ishige-Wada, Mika; Yabe, Hiromasa; Ohura, Toshihiro; Suzuki, Nobuhiro; Kato, Koji; Adachi, Souichi; Kobayashi, Ryōji; Mugishima, Hideo; Kato, Shingo

doi:10.1016/j.ymgme.2012.09.004

Cited by 137 publications

(139 citation statements)

References 25 publications

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“…Enzyme replacement therapy (ERT) [3][4][5], hematopoietic stem cell transplantation (HSCT) [6][7][8][9], substrate reduction therapy (SRT) [10,11], gene therapy [12,13], and anti-inflammatory drugs [14,15] are in clinical use or being investigated under clinical trials for patients with some types of MPS. Initiating these treatments at birth or during early stages provides most benefits in the clinical improvement of the disease.…”

Section: Introductionmentioning

confidence: 99%

Establishment of glycosaminoglycan assays for mucopolysaccharidoses

Tomatsu

Shimada

Mason

et al. 2015

Molecular Genetics and Metabolism

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiency of the lysosomal enzymes essential for catabolism of glycosaminoglycans (GAGs). Accumulation of undegraded GAGs results in dysfunction of multiple organs, resulting in distinct clinical manifestations. A range of methods have been developed to measure specific GAGs in various human samples to investigate diagnosis, prognosis, pathogenesis, GAG interaction with other molecules, and monitoring therapeutic efficacy. We OPEN ACCESSMetabolites 2014, 4 656 established ELISA, liquid chromatography tandem mass spectrometry (LC-MS/MS), and an automated high-throughput mass spectrometry (HT-MS/MS) system (RapidFire) to identify epitopes (ELISA) or disaccharides (MS/MS) derived from different GAGs (dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin sulfate). These methods have a high sensitivity and specificity in GAG analysis, applicable to the analysis of blood, urine, tissues, and cells. ELISA is feasible, sensitive, and reproducible with the standard equipment. HT-MS/MS yields higher throughput than conventional LC-MS/MS-based methods while the HT-MS/MS system does not have a chromatographic step and cannot distinguish GAGs with identical molecular weights, leading to a limitation of measurements for some specific GAGs. Here we review the advantages and disadvantages of these methods for measuring GAG levels in biological specimens. We also describe an unexpected secondary elevation of keratan sulfate in patients with MPS that is an indirect consequence of disruption of catabolism of other GAGs.

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Section: Introductionmentioning

confidence: 99%

Establishment of glycosaminoglycan assays for mucopolysaccharidoses

Tomatsu

Shimada

Mason

et al. 2015

Molecular Genetics and Metabolism

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“…HSCT has the potential advantage that transplanted cells are able to cross the blood-brain barrier and to differentiate into microglia providing an IDS enzyme source in the CNS. Unfortunately, the results of BMT/ HSCT in MPS II have been variable (Vellodi et al 1999;Krivit 2004;Guffon et al 2009;Scarpa et al 2011;Tanaka et al 2012). As reported for ERT, positive effects included resolution of hepatosplenomegaly and stabilization of cardiac abnormalities, but neurological function in patients with the severe disease phenotype did not improve (Guffon et al 2009).…”

Section: Introductionmentioning

confidence: 99%

Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study

et al. 2013

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“…HSCT has been performed on patients with MPS IH, resulting in clinical improvement of somatic manifestations and cognitive function if it is completed under 2 years of age [5,6]. Tanaka et al has addressed that HSCT in patients with MPS II provides a positive effect in cognitive function, when HSCT is conducted before signs of brain atrophy and that HSCT is one of the options in an early stage of the disease [7]. HSCT also shows some benefits in physical activity and growth.…”

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confidence: 99%

“…HSCT also shows some benefits in physical activity and growth. Those studies state that allogeneic HSCT could be potential primary care for MPS I, MPS II [7,8], and MPS VII [9].…”

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confidence: 99%

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Long-term follow up of post-hematopoietic stem cell transplantation for Hurler syndrome: Clinical biochemical and pathological improvements

Tomatsu

Yasuda

Ruhnke

et al. 2015

Molecular Genetics and Metabolism

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a b s t r a c t a r t i c l e i n f oMucopolysaccharidosis type I (MPS I; Hurler syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme α-L-iduronidase which affects multiple organs such as central nervous system (CNS), skeletal system, and physical appearance. Hematopoietic stem cell transplantation (HSCT) is recommended as a primary therapeutic option at an early stage of MPS I with a severe form to ameliorate CNS involvement; however, no description of pathological improvement in skeletal dysplasia has been investigated to date. We here report a 15-year-old male case with MPS I post-HSCT. This patient received successful HSCT at the age of 2 years and 1 month, followed for over 10 years. His activity of daily living including cognitive performance has been kept normal and the present height and weight are 162 cm and 55 kg. Bone deformity has been still developed, resulting in hemiepiphysiodesis of bilateral medial proximal tibia at 12 years of age and successive arthrodesis of thoraco-lumbar spine at 13 years of age; however, skeletal histopathology from surgical remnants showed substantial improvement in bone lesion with markedly reduced occurrence and cell size of vacuolated cells. After a series of surgical procedures, he became ambulant and independent in daily activity. The levels of GAGs in blood were substantially reduced. In conclusion, this long-term post-HSCT observation should shed light on a new aspect of therapeutic effect associated with skeletal pathology and GAG levels as a biomarker, indicating that HSCT is a primary choice at an early stage for not only CNS but also skeletal system in combination of appropriate surgical procedures.

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Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Cited by 137 publications

References 25 publications

Establishment of glycosaminoglycan assays for mucopolysaccharidoses

Establishment of glycosaminoglycan assays for mucopolysaccharidoses

Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study

Long-term follow up of post-hematopoietic stem cell transplantation for Hurler syndrome: Clinical biochemical and pathological improvements

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