Long-Term Study of HCT in Hurler Syndrome: Impact of Timing and Non-Carrier Donors

In this multi-center study of patients with mucopolysaccharidosis type I-Hurler syndrome (MPS-IH), 217 patients were transplanted at a median age of 16 months (range, 2-47 months) with a median age at last follow-up of 9.2 years (range, 3-23 years). The researchers found that preservation of cognitive function at HCT and a younger age at transplantation were major predictors for superior cognitive development post-transplant. In addition, a normal leukocyte alpha-L-iduronidase (IDUA) enzyme level obtained post-HCT was correlated with a significantly better clinical outcome in most organ systems. The authors conclude that using exclusively non-carrier donors and striving to achieve full-donor chimerism improved long-term prognosis. In an accompanying editorial, Dr. Michael Pulsipher notes that these study results are “a strong argument for the development and implementation of newborn screening techniques for MPS-IH that are cost-effective and feasible.”

Aldenhoven M, et al. Blood

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