Anurathapan U.Tim-Aroon T.Zhang W.Sanpote W.Wongrungsri S.Khunin N.Chutipongtanate S.Chirdkiatgumchai V.Ngiwsara L.Jaovisidha S.Khongkraparn A.Pakakasama S.Svasti J.Setchell K.D.R.Wattanasirichaigoon D.Hongeng S.Mahidol University2023-05-192023-05-192023-03-01Pediatric Blood and Cancer Vol.70 No.3 (2023)15455009https://repository.li.mahidol.ac.th/handle/20.500.14594/82385Background: Gaucher disease (GD) is a lysosomal storage disorder, characterized by hepatosplenomegaly, pancytopenia, bone diseases, with or without neurological symptoms. Plasma glucosylsphingosine (lyso-Gb1), a highly sensitive and specific biomarker for GD, has been used for diagnosis and monitoring the response to treatment. Enzyme replacement therapy (ERT) is an effective treatment for the non-neurologic symptoms of GD. Neuronopathic GD (type 2 and 3) accounts for 60%–70% of the Asian affected population. Methods: We explored combination therapy of ERT followed by hematopoietic stem cell transplantation (HSCT) and its long-term outcomes in patients with GD type 3 (GD3). Results: Four patients with GD3 and one with GD type 1 (GD1) underwent HSCT. The types of donor were one matched-related, one matched-unrelated, and three haploidentical. The age at disease onset was 6–18 months and the age at HSCT was 3.8–15 years in the patients with GD3. The latest age at follow-up was 8–22 years, with a post-HSCT duration of 3–14 years. All patients had successful HSCT. Chronic graft-versus-host disease occurred in one patient. The enzyme activities were normalized at 2 weeks post HSCT. Lyso-Gb1 concentrations became lower than the pathological value. All of the patients are still alive and physically independent. Most of them (4/5) returned to school. None of the patients with GD3 had seizures or additional neurological symptoms after HSCT, but showed varying degrees of cognitive impairment. Conclusions: ERT followed by HSCT could be considered as an alternative treatment for patients with GD3 who have a high risk of fatal neurological progression.MedicineArticleSCOPUS10.1002/pbc.301492-s2.0-851450278151545501736562549