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Review
. 2019 Jul;25(7):e226-e246.
doi: 10.1016/j.bbmt.2019.02.012. Epub 2019 Feb 14.

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future

Madeleine Taylor  1 , Shaukat Khan  2 , Molly Stapleton  1 , Jianmin Wang  3 , Jing Chen  3 , Robert Wynn  4 , Hiromasa Yabe  5 , Yasutsugu Chinen  6 , Jaap Jan Boelens  7 , Robert W Mason  1 , Francyne Kubaski  8 , Dafne D G Horovitz  9 , Anneliese L Barth  9 , Marta Serafini  10 , Maria Ester Bernardo  11 , Hironori Kobayashi  12 , Kenji E Orii  13 , Yasuyuki Suzuki  14 , Tadao Orii  13 , Shunji Tomatsu  15
Affiliations
Review

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future

Madeleine Taylor et al. Biol Blood Marrow Transplant. 2019 Jul.

Abstract

Allogenic hematopoietic stem cell transplantation (HSCT) has proven to be a viable treatment option for a selected group of patients with mucopolysaccharidoses (MPS), including those with MPS types I, II, IVA, VI, and VII. Early diagnosis and timely referral to an expert in MPS are critical, followed by a complete examination and evaluation by a multidisciplinary team, including a transplantation physician. Treatment recommendations for MPS are based on multiple biological, sociological, and financial factors, including type of MPS, clinical severity, prognosis, present clinical signs and symptoms (disease stage), age at onset, rate of progression, family factors and expectations, financial burden, feasibility, availability, risks and benefits of available therapies such as HSCT, enzyme replacement therapy (ERT), surgical interventions, and other supportive care. International collaboration and data review are critical to evaluating the therapeutic efficacy and adverse effects of HSCT for MPS. Collaborative efforts to assess HSCT for MPS have been ongoing since the first attempt at HSCT in a patient with MPS reported in 1981. The accumulation of data since then has made it possible to identify early outcomes (ie, transplantation outcomes) and long-term disease-specific outcomes resulting from HSCT. The recent identification of predictive factors and the development of innovative regimens have significantly improved the outcomes of both engraftment failure and transplantation-related mortality. Assessment of long-term outcomes has considered a variety of factors, including type of MPS, type of graft, age at transplantation, and stage of disease progression, among others. Studies on long-term outcomes are considered a key factor in the use of HSCT in patients with MPS. These studies have shown the effects and limitations of HSCT on improving disease manifestations and quality of life. In this review, we summarize the efficacy, side effects, risks, and cost of HSCT for each type of MPS.

Keywords: Allogenic hematopoietic stem cell transplantation; Enzyme replacement therapy; Limitations; Mucopolysaccharidoses; Outcomes.

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Conflict of interest statement

Conflict of Interest:

Madeleine Taylor, Shaukat Khan, Molly Stapleton, Jianmin Wang, Jing Chen, Robert Wynn, Hiromasa Yabe, Yasutsugu Chinen, Jaap Jan Boelens, Robert W. Mason, Francyne Kubaski, Dafne D.G Horovitz, Anneliese L. Barth, Marta Serafini, Alessandro Aiuti, Maria Ester Bernardo, Hironori Kobayashi, Kenji E. Orii, Yasuyuki Suzuki, Tadao Orii, and Shunji Tomatsu contributed to the Review Article and had no conflict of interest with any other party. All authors declare that they have no conflict of interests.

Figures

Figure 1.
Figure 1.
Process by which HSCT treats MPS patients [2, 199].
See this image and copyright information in PMC

References

    1. Neufeld E, Muenzer J, The Online Metabolic & Molecular Bases of Inherited Disease, in: C.B. Scriver AL; Sly WS; Valle D; Childs B; Kinzler KW; Vogelstein B. (Ed.), The mucopolysaccharidoses, McGraw-Hill;, New York, 2001, pp. 3421–3452.
    1. Noh H, Lee JI, Current and potential therapeutic strategies for mucopolysaccharidoses Journal of clinical pharmacy and therapeutics 39 (2014) 215–224. - PubMed
    1. Tomatsu S, Almeciga-Diaz CJ, Montano AM, Yabe H, Tanaka A, Dung VC, Giugliani R, Kubaski F, Mason RW, Yasuda E, Sawamoto K, Mackenzie W, Suzuki Y, Orii KE, Barrera LA, Sly WS, Orii T, Therapies for the bone in mucopolysaccharidoses Molecular genetics and metabolism 114 (2015) 94–109. - PMC - PubMed
    1. Wraith JE, The mucopolysaccharidoses: a clinical review and guide to management Archives of disease in childhood 72 (1995) 263–267. - PMC - PubMed
    1. Guffon N, Souillet G, Maire I, Straczek J, Guibaud P, Follow-up of nine patients with Hurler syndrome after bone marrow transplantation The Journal of pediatrics 133 (1998) 119­125. - PubMed

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