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Article Dans Une Revue Bone Marrow Transplantation Année : 2022

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

Julie Piarroux
  • Fonction : Auteur
Roseline Froissart
  • Fonction : Auteur
Cyril Gitiaux
Damien Bonnet

Résumé

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last followup. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy.
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Dates et versions

hal-04094846 , version 1 (11-05-2023)

Identifiants

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Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, et al.. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone Marrow Transplantation, 2022, 58, pp.295 - 302. ⟨10.1038/s41409-022-01886-1⟩. ⟨hal-04094846⟩
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