Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.

Abstract

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.

• Authors: Troy C Lund, Sara S Cathey, Weston P Miller, Mary Eapen, Martin Andreansky, Christopher C Dvorak, Jeffrey H Davis, Jignesh D Dalal, Steven M Devine, Gretchen M Eames, William S Ferguson, Roger H Giller, Wensheng He, Joanne Kurtzberg, Robert Krance, Emmanuel Katsanis, Victor A Lewis, Indira Sahdev, Paul J Orchard
• Journal: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation (Biol Blood Marrow Transplant) Vol. 20 Issue 11 Pg. 1847-51 (Nov 2014) ISSN: 1523-6536 [Electronic] United States
• PMID: 25016194 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)
• Copyright: Copyright © 2014 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

Topics

• Child, Preschool
• Data Collection
• Hematopoietic Stem Cell Transplantation (methods)
• Humans
• Infant
• Mucolipidoses (therapy)
• Surveys and Questionnaires
• Transplantation Conditioning (methods)
• Treatment Outcome