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

Abstract

AbstractWe 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.