First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis

被引：2
|
作者：
Santoro, Lucia [1 ]
Monachesi, Chiara [1 ,7 ]
Zampini, Lucia [1 ]
Padella, Lucia [1 ]
Galeazzi, Tiziana [1 ]
Santori, Elena [1 ]
Cordiali, Rosanna [1 ]
Dardis, Andrea [2 ]
Catassi, Carlo [1 ,3 ,4 ]
Boccieri, Emilia [5 ]
Galaverna, Federica [5 ]
Locatelli, Franco [5 ,6 ]
机构：
[1] Azienda Ospedaliero Univ Marche, Presidio Salesi, Dept Clin Sci, Div Pediat, Ancona, Italy
[2] Acad Hosp Santa Maria Misericordia, Reg Coordinator Ctr Rare Dis, Udine, Italy
[3] Mass Gen Hosp Children, Div Pediat Gastroenterol & Nutr, Boston, MA USA
[4] Mass Gen Hosp Children, Ctr Celiac Res, Boston, MA USA
[5] IRCCS Osped Pediatr Bambino Gesu, Dept Pediat Hematol & Oncol & Cell & Gene Therapy, Rome, Italy
[6] Univ Cattolica Sacro Cuore, Dept Life Sci & Publ Hlth, Rome, Italy
[7] Polytech Univ Marche, Azienda Ospedaliero Univer Marche, Dept Clin Sci, Pediat Div, Ancona, Italy
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2023年 / 191卷 / 07期
关键词：
enzyme replacement therapy; hematopoietic stem cell transplantation; mannosyl-oligosaccharides; velmanase alfa;
D O I：
10.1002/ajmg.a.63210
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe the first case of bridge therapy in alpha-mannosidosis (AM) in an infant diagnosed at only 5 months of life who underwent enzyme replacement therapy (ERT) in the pre- and peri-transplant phases. Eight ERT infusions were administered before hematopoietic stem cell transplantation (HSCT) and continued for additional 90 days until complete engraftment. The clinical and laboratory data after 3 years post-HSCT show that the early combined intervention may reduce the disease progression and the urine and plasma content of mannosyl-oligosaccharides (OS) monitored by liquid chromatography tandem mass spectrometry (LC-MS/MS). This report highlights that early diagnosis and prompt initiation of such treatments in AM are the best chance to minimize the progression of symptoms.
引用
收藏
页码：1948 / 1952
页数：5
相关论文
共 50 条
  • [1] Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome
    J Tolar
    S S Grewal
    K J Bjoraker
    C B Whitley
    E G Shapiro
    L Charnas
    P J Orchard
    Bone Marrow Transplantation, 2008, 41 : 531 - 535
  • [2] Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome
    Tolar, J.
    Grewal, S. S.
    Bjoraker, K. J.
    Whitley, C. B.
    Shapiro, E. G.
    Charnas, L.
    Orchard, P. J.
    BONE MARROW TRANSPLANTATION, 2008, 41 (06) : 531 - 535
  • [3] Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3
    Hoj, Astrid
    Orngreen, Mette Cathrine
    Naume, Marie Mostue
    Lund, Allan Meldgaard
    MOLECULAR GENETICS AND METABOLISM, 2024, 142 (04)
  • [4] Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
    Grewal, SS
    Wynn, R
    Abdenur, JE
    Burton, BK
    Gharib, M
    Haase, C
    Hayashi, RJ
    Shenoy, S
    Sillence, D
    Tiller, GE
    Dudek, ME
    van Royen-Kerkhof, A
    Wraith, JE
    Woodard, P
    Young, GA
    Wulffraat, N
    Whitley, CB
    Peters, C
    GENETICS IN MEDICINE, 2005, 7 (02) : 143 - 146
  • [5] Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis
    Harmatz, Paul
    Cattaneo, Federica
    Ardigo, Diego
    Geraci, Silvia
    Hennermann, Julia B.
    Guffon, Nathalie
    Lund, Allan
    Hendriksz, Christian J.
    Borgwardt, Line
    MOLECULAR GENETICS AND METABOLISM, 2018, 124 (02) : 152 - 160
  • [6] Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation
    Tanjuakio, Julian
    Suzuki, Yasuyuki
    Patel, Pravin
    Yasuda, Erik
    Kubaski, Francyne
    Tanaka, Akemi
    Yabe, Hiromasa
    Mason, Robert W.
    Montano, Adriana M.
    Orii, Kenji E.
    Orii, Koji O.
    Fukao, Toshiyuki
    Orii, Tadao
    Tomatsu, Shunji
    MOLECULAR GENETICS AND METABOLISM, 2015, 114 (02) : 161 - 169
  • [7] Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice
    Stroobants, Stijn
    Damme, Markus
    Van der Jeugd, Ann
    Vermaercke, Ben
    Andersson, Claes
    Fogh, Jens
    Saftig, Paul
    Blanz, Judith
    D'Hooge, Rudi
    NEUROBIOLOGY OF DISEASE, 2017, 106 : 255 - 268
  • [8] Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
    Minke H de Ru
    Jaap J Boelens
    Anibh M Das
    Simon A Jones
    Johanna H van der Lee
    Nizar Mahlaoui
    Eugen Mengel
    Martin Offringa
    Anne O'Meara
    Rossella Parini
    Attilio Rovelli
    Karl-Walter Sykora
    Vassili Valayannopoulos
    Ashok Vellodi
    Robert F Wynn
    Frits A Wijburg
    Orphanet Journal of Rare Diseases, 6
  • [9] Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres
    Ghosh, Arunabha
    Miller, Weston
    Orchard, Paul J.
    Jones, Simon A.
    Mercer, Jean
    Church, Heather J.
    Tylee, Karen
    Lund, Troy
    Bigger, Brian W.
    Tolar, Jakub
    Wynn, Robert F.
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) : 373 - 377
  • [10] 0 Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome
    Patel, Pravin
    Suzuki, Yasuyuki
    Tanaka, Akemi
    Yabe, Hiromasa
    Kato, Shunichi
    Shimada, Tsutomu
    Mason, Robert W.
    Orii, Kenji E.
    Fukao, Toshiyuki
    Orii, Tadao
    Tomatsu, Shunji
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2014, 1 : 184 - 196
12345