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

Autor: Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P. Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Rok vydání: 2022
Předmět:
Zdroj: Bone Marrow Transplantation. 58:295-302
ISSN: 1476-5365
0268-3369
DOI: 10.1038/s41409-022-01886-1
Popis: 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 follow-up. 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.
Databáze: OpenAIRE
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