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

dc.rights.licenseopenen_US
dc.contributor.authorGARDIN, Antoine
dc.contributor.authorCASTELLE, Martin
dc.contributor.authorPICHARD, Samia
dc.contributor.authorCANO, Aline
dc.contributor.authorCHABROL, Brigitte
dc.contributor.authorPIARROUX, Julie
dc.contributor.authorROUBERTIE, Agathe
dc.contributor.authorNADJAR, Yann
dc.contributor.authorGUEMANN, Anne-Sophie
dc.contributor.authorTARDIEU, Marine
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorROBERT, Matthieu P
dc.contributor.authorCAILLAUD, Catherine
dc.contributor.authorFROISSART, Roseline
dc.contributor.authorLEBOEUF, Virginie
dc.contributor.authorBARBIER, Valérie
dc.contributor.authorBOUCHEREAU, Juliette
dc.contributor.authorSCHIFF, Manuel
dc.contributor.authorFAUROUX, Brigitte
dc.contributor.authorTHIERRY, Briac
dc.contributor.authorLUSCAN, Romain
dc.contributor.authorJAMES, Syril
dc.contributor.authorDE SAINT-DENIS, Timothée
dc.contributor.authorPANNIER, Stéphanie
dc.contributor.authorGITIAUX, Cyril
dc.contributor.authorVERGNAUD, Estelle
dc.contributor.authorBODDAERT, Nathalie
dc.contributor.authorLASCOURREGES, Claire
dc.contributor.authorLEMOINE, Michel
dc.contributor.authorBONNET, Damien
dc.contributor.authorBLANCHE, Stéphane
dc.contributor.authorDALLE, Jean-Hugues
dc.contributor.authorNEVEN, Bénédicte
dc.contributor.authorDE LONLAY, Pascale
dc.contributor.authorBRASSIER, Anaïs
dc.date.accessioned2023-10-31T10:35:09Z
dc.date.available2023-10-31T10:35:09Z
dc.date.issued2023-03-01
dc.identifier.issn1476-5365en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/184567
dc.description.abstractEnMucopolysaccharidosis 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.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enAdult
dc.subject.enHumans
dc.subject.enMucopolysaccharidosis I
dc.subject.enFollow-Up Studies
dc.subject.enRetrospective Studies
dc.subject.enHematopoietic Stem Cell Transplantation
dc.subject.enGenetic Therapy
dc.subject.enIduronidase
dc.title.enLong term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
dc.title.alternativeBone Marrow Transplanten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41409-022-01886-1en_US
dc.subject.halSciences du Vivant [q-bio]en_US
dc.identifier.pubmed36494569en_US
bordeaux.page295-302en_US
bordeaux.volume58en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue3en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.date=2023-03-01&rft.volume=58&rft.issue=3&rft.spage=295-302&rft.epage=295-302&rft.eissn=1476-5365&rft.issn=1476-5365&rft.au=GARDIN,%20Antoine&CASTELLE,%20Martin&PICHARD,%20Samia&CANO,%20Aline&CHABROL,%20Brigitte&rft.genre=article


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