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

Lucia Santoro; Chiara Monachesi; Lucia Zampini; Lucia Padella; Tiziana Galeazzi; Elena Santori; Rosanna Cordiali; Andrea Dardis; Carlo Catassi; Emilia Boccieri; Federica Galaverna; Franco Locatelli

doi:10.1002/ajmg.a.63210

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

Lucia Santoro, Chiara Monachesi, Lucia Zampini, Lucia Padella, Tiziana Galeazzi, Elena Santori, Rosanna Cordiali, Andrea Dardis, Carlo Catassi, Emilia Boccieri, Federica Galaverna, Franco Locatelli

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

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.

Lingua originale	English
pagine (da-a)	1948-1952
Numero di pagine	5
Rivista	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume	191
DOI	https://doi.org/10.1002/ajmg.a.63210
Stato di pubblicazione	Pubblicato - 2023

Keywords

enzyme replacement therapy
velmanase alfa
mannosyl-oligosaccharides
hematopoietic stem cell transplantation

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10.1002/ajmg.a.63210

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Santoro, L., Monachesi, C., Zampini, L., Padella, L., Galeazzi, T., Santori, E., Cordiali, R., Dardis, A., Catassi, C., Boccieri, E., Galaverna, F., & Locatelli, F. (2023). First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 191, 1948-1952. https://doi.org/10.1002/ajmg.a.63210

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

abstract = "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.",

keywords = "enzyme replacement therapy, velmanase alfa, mannosyl-oligosaccharides, hematopoietic stem cell transplantation, enzyme replacement therapy, velmanase alfa, mannosyl-oligosaccharides, hematopoietic stem cell transplantation",

author = "Lucia Santoro and Chiara Monachesi and Lucia Zampini and Lucia Padella and Tiziana Galeazzi and Elena Santori and Rosanna Cordiali and Andrea Dardis and Carlo Catassi and Emilia Boccieri and Federica Galaverna and Franco Locatelli",

year = "2023",

doi = "10.1002/ajmg.a.63210",

language = "English",

volume = "191",

pages = "1948--1952",

journal = "AMERICAN JOURNAL OF MEDICAL GENETICS. PART A",

issn = "1552-4825",

publisher = "WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030",

}

Santoro, L, Monachesi, C, Zampini, L, Padella, L, Galeazzi, T, Santori, E, Cordiali, R, Dardis, A, Catassi, C, Boccieri, E, Galaverna, F & Locatelli, F 2023, 'First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis', AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 191, pagg. 1948-1952. https://doi.org/10.1002/ajmg.a.63210

TY - JOUR

T1 - First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis

AU - Santoro, Lucia

AU - Monachesi, Chiara

AU - Zampini, Lucia

AU - Padella, Lucia

AU - Galeazzi, Tiziana

AU - Santori, Elena

AU - Cordiali, Rosanna

AU - Dardis, Andrea

AU - Catassi, Carlo

AU - Boccieri, Emilia

AU - Galaverna, Federica

AU - Locatelli, Franco

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

KW - enzyme replacement therapy

KW - velmanase alfa

KW - mannosyl-oligosaccharides

KW - hematopoietic stem cell transplantation

KW - enzyme replacement therapy

KW - velmanase alfa

KW - mannosyl-oligosaccharides

KW - hematopoietic stem cell transplantation

UR - http://hdl.handle.net/10807/244219

U2 - 10.1002/ajmg.a.63210

DO - 10.1002/ajmg.a.63210

M3 - Article

SN - 1552-4825

VL - 191

SP - 1948

EP - 1952

JO - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

JF - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

ER -

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

Abstract

Keywords

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