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

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

Research output: Contribution to journalArticle

72 Citations (Scopus)

Abstract

Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for mucopolysaccharidosis I (MPS I) patients < 2 years of age and an intelligence quotient (IQ) of ≥ 70. Even after the approval of enzyme replacement therapy for both of MPS I and II, HSCT is still indicated for patients with MPS I severe form (Hurler syndrome). To evaluate the efficacy and benefit of HSCT in MPS II patients, we carried out a nationwide retrospective study in Japan. Activities of daily living (ADL), IQ, brain magnetic resonance image (MRI) lesions, cardiac valvular regurgitation, and urinary glycosaminoglycan (GAG) were analyzed at baseline and at the most recent visit. We also performed a questionnaire analysis about ADL for an HSCT-treated cohort and an untreated cohort (natural history). Records of 21 patients were collected from eight hospitals. The follow-up period in the retrospective study was 9.6 ± 3.5 years. ADL was maintained around baseline levels. Cribriform changes and ventricular dilatation on brain MRI were improved in 9/17 and 4/17 patients, respectively. Stabilization of brain atrophy was shown in 11/17 patients. Cardiac valvular regurgitation was diminished in 20/63 valves. Urinary GAG concentration was remarkably lower in HSCT-treated patients than age-matched untreated patients. In the questionnaire analysis, speech deterioration was observed in 12/19 patients in the untreated cohort and 1/7 patient in HSCT-treated cohort. HSCT showed effectiveness towards brain or heart involvement, when performed before signs of brain atrophy or valvular regurgitation appear. We consider HSCT is worthwhile in early stages of the disease for patients with MPS II.

Original languageEnglish
Pages (from-to)513-520
Number of pages8
JournalMolecular Genetics and Metabolism
Volume107
Issue number3
DOIs
Publication statusPublished - Nov 1 2012
Externally publishedYes

Fingerprint

Mucopolysaccharidosis II
Hematopoietic Stem Cell Transplantation
Stem cells
Brain
Japan
Mucopolysaccharidosis I
Magnetic resonance
Activities of Daily Living
Glycosaminoglycans
Intelligence
Atrophy
Speech analysis
Surveys and Questionnaires
Magnetic Resonance Spectroscopy
Retrospective Studies
Enzyme Replacement Therapy
Deterioration
Stabilization
Natural History

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

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, Ryoji; Mugishima, Hideo; Kato, Shunichi.

In: Molecular Genetics and Metabolism, Vol. 107, No. 3, 01.11.2012, p. 513-520.

Research output: Contribution to journalArticle

Tanaka, A, Okuyama, T, Suzuki, Y, Sakai, N, Takakura, H, Sawada, T, Tanaka, T, Otomo, T, Ohashi, T, Ishige-Wada, M, Yabe, H, Ohura, T, Suzuki, N, Kato, K, Adachi, S, Kobayashi, R, Mugishima, H & Kato, S 2012, 'Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 513-520. https://doi.org/10.1016/j.ymgme.2012.09.004
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, Ryoji ; Mugishima, Hideo ; Kato, Shunichi. / Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II : A nationwide survey in Japan. In: Molecular Genetics and Metabolism. 2012 ; Vol. 107, No. 3. pp. 513-520.
@article{e90a888765f14a848d856d533c0588f3,
title = "Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan",
abstract = "Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for mucopolysaccharidosis I (MPS I) patients < 2 years of age and an intelligence quotient (IQ) of ≥ 70. Even after the approval of enzyme replacement therapy for both of MPS I and II, HSCT is still indicated for patients with MPS I severe form (Hurler syndrome). To evaluate the efficacy and benefit of HSCT in MPS II patients, we carried out a nationwide retrospective study in Japan. Activities of daily living (ADL), IQ, brain magnetic resonance image (MRI) lesions, cardiac valvular regurgitation, and urinary glycosaminoglycan (GAG) were analyzed at baseline and at the most recent visit. We also performed a questionnaire analysis about ADL for an HSCT-treated cohort and an untreated cohort (natural history). Records of 21 patients were collected from eight hospitals. The follow-up period in the retrospective study was 9.6 ± 3.5 years. ADL was maintained around baseline levels. Cribriform changes and ventricular dilatation on brain MRI were improved in 9/17 and 4/17 patients, respectively. Stabilization of brain atrophy was shown in 11/17 patients. Cardiac valvular regurgitation was diminished in 20/63 valves. Urinary GAG concentration was remarkably lower in HSCT-treated patients than age-matched untreated patients. In the questionnaire analysis, speech deterioration was observed in 12/19 patients in the untreated cohort and 1/7 patient in HSCT-treated cohort. HSCT showed effectiveness towards brain or heart involvement, when performed before signs of brain atrophy or valvular regurgitation appear. We consider HSCT is worthwhile in early stages of the disease for patients with MPS II.",
author = "Akemi Tanaka and Torayuki Okuyama and Yasuyuki Suzuki and Norio Sakai and Hiromitsu Takakura and Tomo Sawada and Toju Tanaka and Takanobu Otomo and Toya Ohashi and Mika Ishige-Wada and Hiromasa Yabe and Toshihiro Ohura and Nobuhiro Suzuki and Koji Kato and Souichi Adachi and Ryoji Kobayashi and Hideo Mugishima and Shunichi Kato",
year = "2012",
month = "11",
day = "1",
doi = "10.1016/j.ymgme.2012.09.004",
language = "English",
volume = "107",
pages = "513--520",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II

T2 - A nationwide survey in Japan

AU - Tanaka, Akemi

AU - Okuyama, Torayuki

AU - Suzuki, Yasuyuki

AU - Sakai, Norio

AU - Takakura, Hiromitsu

AU - Sawada, Tomo

AU - Tanaka, Toju

AU - Otomo, Takanobu

AU - Ohashi, Toya

AU - Ishige-Wada, Mika

AU - Yabe, Hiromasa

AU - Ohura, Toshihiro

AU - Suzuki, Nobuhiro

AU - Kato, Koji

AU - Adachi, Souichi

AU - Kobayashi, Ryoji

AU - Mugishima, Hideo

AU - Kato, Shunichi

PY - 2012/11/1

Y1 - 2012/11/1

N2 - Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for mucopolysaccharidosis I (MPS I) patients < 2 years of age and an intelligence quotient (IQ) of ≥ 70. Even after the approval of enzyme replacement therapy for both of MPS I and II, HSCT is still indicated for patients with MPS I severe form (Hurler syndrome). To evaluate the efficacy and benefit of HSCT in MPS II patients, we carried out a nationwide retrospective study in Japan. Activities of daily living (ADL), IQ, brain magnetic resonance image (MRI) lesions, cardiac valvular regurgitation, and urinary glycosaminoglycan (GAG) were analyzed at baseline and at the most recent visit. We also performed a questionnaire analysis about ADL for an HSCT-treated cohort and an untreated cohort (natural history). Records of 21 patients were collected from eight hospitals. The follow-up period in the retrospective study was 9.6 ± 3.5 years. ADL was maintained around baseline levels. Cribriform changes and ventricular dilatation on brain MRI were improved in 9/17 and 4/17 patients, respectively. Stabilization of brain atrophy was shown in 11/17 patients. Cardiac valvular regurgitation was diminished in 20/63 valves. Urinary GAG concentration was remarkably lower in HSCT-treated patients than age-matched untreated patients. In the questionnaire analysis, speech deterioration was observed in 12/19 patients in the untreated cohort and 1/7 patient in HSCT-treated cohort. HSCT showed effectiveness towards brain or heart involvement, when performed before signs of brain atrophy or valvular regurgitation appear. We consider HSCT is worthwhile in early stages of the disease for patients with MPS II.

AB - Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for mucopolysaccharidosis I (MPS I) patients < 2 years of age and an intelligence quotient (IQ) of ≥ 70. Even after the approval of enzyme replacement therapy for both of MPS I and II, HSCT is still indicated for patients with MPS I severe form (Hurler syndrome). To evaluate the efficacy and benefit of HSCT in MPS II patients, we carried out a nationwide retrospective study in Japan. Activities of daily living (ADL), IQ, brain magnetic resonance image (MRI) lesions, cardiac valvular regurgitation, and urinary glycosaminoglycan (GAG) were analyzed at baseline and at the most recent visit. We also performed a questionnaire analysis about ADL for an HSCT-treated cohort and an untreated cohort (natural history). Records of 21 patients were collected from eight hospitals. The follow-up period in the retrospective study was 9.6 ± 3.5 years. ADL was maintained around baseline levels. Cribriform changes and ventricular dilatation on brain MRI were improved in 9/17 and 4/17 patients, respectively. Stabilization of brain atrophy was shown in 11/17 patients. Cardiac valvular regurgitation was diminished in 20/63 valves. Urinary GAG concentration was remarkably lower in HSCT-treated patients than age-matched untreated patients. In the questionnaire analysis, speech deterioration was observed in 12/19 patients in the untreated cohort and 1/7 patient in HSCT-treated cohort. HSCT showed effectiveness towards brain or heart involvement, when performed before signs of brain atrophy or valvular regurgitation appear. We consider HSCT is worthwhile in early stages of the disease for patients with MPS II.

UR - http://www.scopus.com/inward/record.url?scp=84867901875&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84867901875&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2012.09.004

DO - 10.1016/j.ymgme.2012.09.004

M3 - Article

C2 - 23022072

AN - SCOPUS:84867901875

VL - 107

SP - 513

EP - 520

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 3

ER -