Mucolipidosis type II (MLII), or I-cell disease, is a rare but severe disorder affecting localization of enzymes to the lysosome, generally resulting in death before the 10th birthday. Although hematopoietic stem cell transplantation (HSCT) has been used to successfully treat some lysosomal storage diseases, only 2 cases have been reported on the use of HSCT to treat MLII. For the first time, we describe the combined international experience in the use of HSCT for MLII in 22 patients. Although 95% of the patients engrafted, overall survival was low, with only 6 patients (27%) alive at last follow-up. The most common cause of death post-transplant was cardiovascular complications, most likely due to disease progression. Survivors were globally delayed in development and often required complex medical support, such as gastrostomy tubes for nutrition and tracheostomy with mechanical ventilation. Although HSCT has demonstrated efficacy in treating some lysosomal storage disorders, the neurologic outcome and survival for patents with MLII were poor. Therefore, new medical and cellular therapies should be sought for these patients.
Bibliographical noteFunding Information:
The CIBMTR is supported by Public Health Service Grant/Cooperative Agreement U24-CA076518 from the National Cancer Institute , the National Heart, Lung and Blood Institute (NHLBI) ( 5U10HL069294 ), and the National Institute of Allergy and Infectious Diseases ; by Grant/Cooperative Agreement 5U10HL069294 from NHLBI and NCI ; a contract HHSH250201200016 C with Health Resources and Services Administration; two grants ( N00014-12-1-0142 and N00014-13-1-0039 ) from the Office of Naval Research ; and grants from * Actinium Pharmaceuticals ; Allos Therapeutics, Inc. ; * Amgen, Inc. ; Anonymous donation to the Medical College of Wisconsin ; Ariad Pharmaceuticals ; Be the Match Foundation ; * Blue Cross and Blue Shield Association ; * Celgene ; Chimerix, Inc. ; Fred Hutchinson Cancer Research Center ; Fresenius-Biotech North America, Inc. ; * Gamida Cell Teva Joint Venture Ltd. ; Genentech, Inc. ; * Gentium SpA ; Genzyme Corporation ; GlaxoSmithKline ; Health Research, Inc. . ROSWELL PARK CANCER INSTITUTE ; HistoGenetics, Inc. ; Incyte Corporation ; Jeff Gordon Children's Foundation ; Kiadis Pharma ; The Leukemia & Lymphoma Society ; Medac GmbH ; The Medical College of Wisconsin ; Merck & Co., Inc. ; Millennium: The Takeda Oncology Co. ; * Milliman USA, Inc. ; * Miltenyi Biotec, Inc. ; National Marrow Donor Program ; Onyx Pharmaceuticals ; Optum Healthcare Solutions, Inc. ; Osiris Therapeutics, Inc. ; Otsuka America Pharmaceutical, Inc. ; Perkin Elmer, Inc. ; * Remedy Informatics ; * Sanofi US ; Seattle Genetics ; Sigma-Tau Pharmaceuticals ; Soligenix, Inc. ; St. Baldrick's Foundation ; StemCyte, A Global Cord Blood Therapeutics Co. ; Stemsoft Software, Inc. ; Swedish Orphan Biovitrum ; * Tarix Pharmaceuticals ; * Terumo BCT ; * Teva Neuroscience, Inc. ; * THERAKOS, Inc. ; University of Minnesota ; University of Utah ; and * WellPoint , Inc. . The views expressed in this article do not reflect the official policy or position of the National Institute of Health, the Department of the Navy, the Department of Defense, Health Resources and Services Administration or any other agency of the US Government. (*Corporate Members.)
© 2014 American Society for Blood and Marrow Transplantation.
Copyright 2014 Elsevier B.V., All rights reserved.
- Hematopoietic stem cell transplant
- I-cell disease
- Lysosomal storage disease
- Mucolipidosis type II