Journal ArticleDOI
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 +17 more
Reads0
Chats0
TLDR
HSCT showed effectiveness towards brain or heart involvement, when performed before signs of brain atrophy or valvular regurgitation appear, and it is considered HSCT is worthwhile in early stages of the disease for patients with MPS II.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2012-11-01. It has received 128 citations till now. The article focuses on the topics: Mucopolysaccharidosis type II & Enzyme replacement therapy.read more
Citations
More filters
Journal ArticleDOI
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future
Madeleine Taylor,Madeleine Taylor,Shaukat Khan,Molly Stapleton,Molly Stapleton,Jianmin Wang,Jing Chen,Robert Wynn,Hiromasa Yabe,Yasutsugu Chinen,Jaap Jan Boelens,Robert W. Mason,Robert W. Mason,Francyne Kubaski,Dafne Dain Gandelman Horovitz,Anneliese Lopes Barth,Marta Serafini,Maria Ester Bernardo,Hironori Kobayashi,Kenji E. Orii,Yasuyuki Suzuki,Tadao Orii,Shunji Tomatsu +22 more
TL;DR: The efficacy, side effects, risks, and cost of HSCT for each type of MPS is summarized.
Journal ArticleDOI
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II
Francyne Kubaski,Francyne Kubaski,Hiromasa Yabe,Yasuyuki Suzuki,Toshiyuki Seto,Takashi Hamazaki,Robert W. Mason,Robert W. Mason,Li Xie,Tor Gunnar Hugo Onsten,Sandra Leistner-Segal,Sandra Leistner-Segal,Roberto Giugliani,Vũ Chí Dũng,Can Thi Bich Ngoc,Seiji Yamaguchi,Adriana M. Montaño,Kenji E. Orii,Toshiyuki Fukao,Haruo Shintaku,Tadao Orii,Shunji Tomatsu +21 more
TL;DR: Most HSCT patients showed greater improvement in somatic features, joint movements, and activity of daily living than the ERT patients, and GAG levels in blood were significantly reduced by ERT and levels were even lower after HSCT.
Journal ArticleDOI
Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I.
Natalia Gomez-Ospina,Samantha G. Scharenberg,Nathalie Mostrel,Rasmus O. Bak,Sruthi Mantri,Rolen M. Quadros,Channabasavaiah B. Gurumurthy,Ciaran M. Lee,Gang Bao,Carlos Suárez,Shaukat Khan,Kazuki Sawamoto,Shunji Tomatsu,Nitin Raj,Laura D. Attardi,Laure Aurelian,Matthew H. Porteus +16 more
TL;DR: An efficient ex vivo genome editing approach using CRISPR-Cas9 that targets the lysosomal enzyme iduronidase to the CCR5 safe harbor locus in human CD34+ hematopoietic stem and progenitor cells is presented and can phenotypically correct MSPI in mouse model.
Journal ArticleDOI
Therapies for the bone in mucopolysaccharidoses
Shunji Tomatsu,Shunji Tomatsu,Carlos J. Alméciga-Díaz,Adriana M. Montaño,Hiromasa Yabe,Akemi Tanaka,Vu Chi Dung,Roberto Giugliani,Francyne Kubaski,Robert W. Mason,Eriko Yasuda,Kazuki Sawamoto,William G. Mackenzie,Yasuyuki Suzuki,Kenji E. Orii,Luis A. Barrera,William S. Sly,Tadao Orii +17 more
TL;DR: Therapies should start at a very early stage prior to irreversible bone lesion, and damage since the severity of skeletal dysplasia is associated with level of activity during daily life.
Journal ArticleDOI
Mucopolysaccharidosis IVA and glycosaminoglycans.
Shaukat Khan,Carlos J. Alméciga-Díaz,Kazuki Sawamoto,William G. Mackenzie,Mary C. Theroux,Christian Pizarro,Robert W. Mason,Tadao Orii,Shunji Tomatsu,Shunji Tomatsu,Shunji Tomatsu +10 more
TL;DR: Historical aspect, property of GAGs, diagnosis, screening, pathogenesis, and current and future therapies of MPS IVA are comprehensively described.
References
More filters
Journal ArticleDOI
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Nathalie Cartier,Salima Hacein-Bey-Abina,Cynthia C. Bartholomae,Gabor Istvan Veres,Manfred Schmidt,Ina Kutschera,Michel Vidaud,Ulrich Abel,Liliane Dal-Cortivo,Laure Caccavelli,Nizar Mahlaoui,Veronique Kiermer,Denice Mittelstaedt,Céline Bellesme,Najiba Lahlou,François Lefrère,Stéphane Blanche,Muriel Audit,Emmanuel Payen,Philippe Leboulch,Philippe Leboulch,Bruno l’Homme,Pierre Bougnères,Christof von Kalle,Alain Fischer,Marina Cavazzana-Calvo,Patrick Aubourg +26 more
TL;DR: Lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in ALD, and progressive cerebral demyelination in the two patients stopped, a clinical outcome comparable to that achieved by allogeneic HCT.
Journal ArticleDOI
Left retrograde cardioangiography in acquired cardiac disease: Technic, indications and interpretations in 700 cases∗
TL;DR: Application of retrograde left cardioangiography to 700 patients, both adults and children, with acquired valvular diseases is described, and the value of this information in the surgical management of many forms of cardiac disease is emphasized.
Journal ArticleDOI
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.
S.L. Staba,Maria L. Escolar,Michele D. Poe,Young S. Kim,Paul L. Martin,Paul Szabolcs,June Allison-Thacker,Susan Wood,David A. Wenger,Pablo Rubinstein,John J. Hopwood,William Krivit,Joanne Kurtzberg +12 more
TL;DR: Cord blood from unrelated donors appears to be an excellent source of stem cells for transplantation in patients with Hurler's syndrome and sustained engraftment can be achieved without total-body irradiation.
Journal ArticleDOI
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation
TL;DR: From 3-4 months after graft until the present (13 months after the graft) iduronidase activity has been present in the serum and the urine and there has been evidence of considerable degradation of glycosaminoglycans excreted in the urine.
Journal ArticleDOI
Double-blind comparison of captopril alone against frusemide plus amiloride in mild heart failure
TL;DR: Angiotensin converting enzyme inhibition alone is not sufficient treatment for patients with mild heart failure and a history of overt pulmonary oedema, according to a double-blind randomised crossover trial.
Related Papers (5)
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer,James E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick A. Martin,Uma Ramaswami,Muge Gucsavas-Calikoglu,Suresh Vijayaraghavan,Susanne Wendt,Ana Cristina Puga,Brian Ulbrich,Marwan Shinawi,Maureen Cleary,Diane Piper,Anne Marie Conway,Alan Kimura +18 more
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
Joseph Muenzer,Michael Beck,Christine M. Eng,Roberto Giugliani,Paul Harmatz,Rick A. Martin,Uma Ramaswami,Ashok Vellodi,James E. Wraith,Maureen Cleary,Muge Gucsavas-Calikoglu,Ana Cristina Puga,Marwan Shinawi,Birgit Ulbrich,Suresh Vijayaraghavan,Susanne Wendt,Anne Marie Conway,Alexandra Rossi,David A.H. Whiteman,Alan Kimura +19 more
Hurler Syndrome: II. Outcome of HLA-Genotypically Identical Sibling and HLA-Haploidentical Related Donor Bone Marrow Transplantation in Fifty-Four Children
Charles Peters,Elsa Shapiro,James A. Anderson,P. Jean Henslee-Downey,Martin R. Klemperer,Morton J. Cowan,E. Fred Saunders,Pedro A. deAlarcon,Clare J. Twist,James B. Nachman,Gregory A. Hale,Richard E. Harris,Marta K. Rozans,Joanne Kurtzberg,Guy H. Grayson,Thomas E. Williams,Carl Lenarsky,John E. Wagner,William Krivit +18 more