Cargando…

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

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, inte...

Descripción completa

Detalles Bibliográficos
Autores principales: Gardin, Antoine, Castelle, Martin, Pichard, Samia, Cano, Aline, Chabrol, Brigitte, Piarroux, Julie, Roubertie, Agathe, Nadjar, Yann, Guemann, Anne-Sophie, Tardieu, Marine, Lacombe, Didier, Robert, Matthieu P., Caillaud, Catherine, Froissart, Roseline, Leboeuf, Virginie, Barbier, Valérie, Bouchereau, Juliette, Schiff, Manuel, Fauroux, Brigitte, Thierry, Briac, Luscan, Romain, James, Syril, de Saint-Denis, Timothée, Pannier, Stéphanie, Gitiaux, Cyril, Vergnaud, Estelle, Boddaert, Nathalie, Lascourreges, Claire, Lemoine, Michel, Bonnet, Damien, Blanche, Stéphane, Dalle, Jean-Hugues, Neven, Bénédicte, de Lonlay, Pascale, Brassier, Anaïs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10005963/
https://www.ncbi.nlm.nih.gov/pubmed/36494569
http://dx.doi.org/10.1038/s41409-022-01886-1
_version_ 1784905205917155328
author Gardin, Antoine
Castelle, Martin
Pichard, Samia
Cano, Aline
Chabrol, Brigitte
Piarroux, Julie
Roubertie, Agathe
Nadjar, Yann
Guemann, Anne-Sophie
Tardieu, Marine
Lacombe, Didier
Robert, Matthieu P.
Caillaud, Catherine
Froissart, Roseline
Leboeuf, Virginie
Barbier, Valérie
Bouchereau, Juliette
Schiff, Manuel
Fauroux, Brigitte
Thierry, Briac
Luscan, Romain
James, Syril
de Saint-Denis, Timothée
Pannier, Stéphanie
Gitiaux, Cyril
Vergnaud, Estelle
Boddaert, Nathalie
Lascourreges, Claire
Lemoine, Michel
Bonnet, Damien
Blanche, Stéphane
Dalle, Jean-Hugues
Neven, Bénédicte
de Lonlay, Pascale
Brassier, Anaïs
author_facet Gardin, Antoine
Castelle, Martin
Pichard, Samia
Cano, Aline
Chabrol, Brigitte
Piarroux, Julie
Roubertie, Agathe
Nadjar, Yann
Guemann, Anne-Sophie
Tardieu, Marine
Lacombe, Didier
Robert, Matthieu P.
Caillaud, Catherine
Froissart, Roseline
Leboeuf, Virginie
Barbier, Valérie
Bouchereau, Juliette
Schiff, Manuel
Fauroux, Brigitte
Thierry, Briac
Luscan, Romain
James, Syril
de Saint-Denis, Timothée
Pannier, Stéphanie
Gitiaux, Cyril
Vergnaud, Estelle
Boddaert, Nathalie
Lascourreges, Claire
Lemoine, Michel
Bonnet, Damien
Blanche, Stéphane
Dalle, Jean-Hugues
Neven, Bénédicte
de Lonlay, Pascale
Brassier, Anaïs
author_sort Gardin, Antoine
collection PubMed
description 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.
format Online
Article
Text
id pubmed-10005963
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-100059632023-03-12 Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients Gardin, Antoine Castelle, Martin Pichard, Samia Cano, Aline Chabrol, Brigitte Piarroux, Julie Roubertie, Agathe Nadjar, Yann Guemann, Anne-Sophie Tardieu, Marine Lacombe, Didier Robert, Matthieu P. Caillaud, Catherine Froissart, Roseline Leboeuf, Virginie Barbier, Valérie Bouchereau, Juliette Schiff, Manuel Fauroux, Brigitte Thierry, Briac Luscan, Romain James, Syril de Saint-Denis, Timothée Pannier, Stéphanie Gitiaux, Cyril Vergnaud, Estelle Boddaert, Nathalie Lascourreges, Claire Lemoine, Michel Bonnet, Damien Blanche, Stéphane Dalle, Jean-Hugues Neven, Bénédicte de Lonlay, Pascale Brassier, Anaïs Bone Marrow Transplant Article 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. Nature Publishing Group UK 2022-12-09 2023 /pmc/articles/PMC10005963/ /pubmed/36494569 http://dx.doi.org/10.1038/s41409-022-01886-1 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Gardin, Antoine
Castelle, Martin
Pichard, Samia
Cano, Aline
Chabrol, Brigitte
Piarroux, Julie
Roubertie, Agathe
Nadjar, Yann
Guemann, Anne-Sophie
Tardieu, Marine
Lacombe, Didier
Robert, Matthieu P.
Caillaud, Catherine
Froissart, Roseline
Leboeuf, Virginie
Barbier, Valérie
Bouchereau, Juliette
Schiff, Manuel
Fauroux, Brigitte
Thierry, Briac
Luscan, Romain
James, Syril
de Saint-Denis, Timothée
Pannier, Stéphanie
Gitiaux, Cyril
Vergnaud, Estelle
Boddaert, Nathalie
Lascourreges, Claire
Lemoine, Michel
Bonnet, Damien
Blanche, Stéphane
Dalle, Jean-Hugues
Neven, Bénédicte
de Lonlay, Pascale
Brassier, Anaïs
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
title Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
title_full Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
title_fullStr Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
title_full_unstemmed Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
title_short Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
title_sort long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type i-h: a retrospective study of 51 patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10005963/
https://www.ncbi.nlm.nih.gov/pubmed/36494569
http://dx.doi.org/10.1038/s41409-022-01886-1
work_keys_str_mv AT gardinantoine longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT castellemartin longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT pichardsamia longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT canoaline longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT chabrolbrigitte longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT piarrouxjulie longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT roubertieagathe longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT nadjaryann longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT guemannannesophie longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT tardieumarine longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT lacombedidier longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT robertmatthieup longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT caillaudcatherine longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT froissartroseline longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT leboeufvirginie longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT barbiervalerie longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT bouchereaujuliette longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT schiffmanuel longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT faurouxbrigitte longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT thierrybriac longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT luscanromain longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT jamessyril longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT desaintdenistimothee longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT pannierstephanie longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT gitiauxcyril longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT vergnaudestelle longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT boddaertnathalie longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT lascourregesclaire longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT lemoinemichel longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT bonnetdamien longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT blanchestephane longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT dallejeanhugues longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT nevenbenedicte longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT delonlaypascale longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients
AT brassieranais longtermfollowupafterhaematopoieticstemcelltransplantationformucopolysaccharidosistypeiharetrospectivestudyof51patients