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.

• Authors: Lucia Santoro, Chiara Monachesi, Lucia Zampini, Lucia Padella, Tiziana Galeazzi, Elena Santori, Rosanna Cordiali, Andrea Dardis, Carlo Catassi, Emilia Boccieri, Federica Galaverna, Franco Locatelli
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 191 Issue 7 Pg. 1948-1952 (07 2023) ISSN: 1552-4833 [Electronic] United States
• PMID: 37045799 (Publication Type: Case Reports)
• Copyright: © 2023 Wiley Periodicals LLC.

Topics

• Infant
• Humans
• alpha-Mannosidosis (diagnosis, therapy)
• Enzyme Replacement Therapy (methods)
• Chromatography, Liquid
• Tandem Mass Spectrometry
• Hematopoietic Stem Cell Transplantation