Allogeneic bone marrow transplantation for lysosomal storage diseases

P. M. Hoogerbrugge; O. F. Brouwer; P. Bordigoni; G. Cornu; P. Kapaun; J. J. Ortega; A. O'Meara; G. Souillet; D. Frappaz; S. Blanche; A. Fischer; O. Ringden

doi:10.1016/S0140-6736(95)92597-X

Allogeneic bone marrow transplantation for lysosomal storage diseases

P. M. Hoogerbrugge, O. F. Brouwer, P. Bordigoni, G. Cornu, P. Kapaun, J. J. Ortega, A. O'Meara, G. Souillet, D. Frappaz, S. Blanche, A. Fischer, O. Ringden

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

245 Citaten (Scopus)

Samenvatting

Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients transplanted for lysosomal storage diseases. The transplant-related mortality was 10% if an HLA-identical sibling marrow donor was available (n=40) and 20-25% if mismatched tissue was used. Data on the effect of bone marrow transplantation on biochemical and clinical disease variables were available in 29 of the 63. 28 had a follow-up duration of 1·0-10·2 years; 1 patient died of disease progression in the first year after stable engraftment. 13 patients who had severe neurological symptoms at the time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal symptoms because of various mucopolysaccharidoses (MPSs). There was stabilisation of the skeletal lesions during the observation period of 1·4-6·4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated after transplantation. We could not evaluate the biochemical and clinical variables in 34 patients because of graft rejection, transplant-related mortality, or follow-up of less than 1 year. There were significant beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease. Stabilisation of disease was observed in patients with MPS-I and MPS-II; this potential benefit needs to be confirmed by longer follow-up. Bone marow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.

Originele taal-2	Engels
Pagina's (van-tot)	1398-1402
Aantal pagina's	5
Tijdschrift	Lancet
Volume	345
Nummer van het tijdschrift	8962
DOI's	https://doi.org/10.1016/S0140-6736(95)92597-X
Status	Gepubliceerd - 3 jun. 1995
Extern gepubliceerd	Ja

Toegang tot document

10.1016/S0140-6736(95)92597-X

Citeer dit

@article{29c73de2c9c74feaa8ca275d13f89bc4,

title = "Allogeneic bone marrow transplantation for lysosomal storage diseases",

abstract = "Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients transplanted for lysosomal storage diseases. The transplant-related mortality was 10% if an HLA-identical sibling marrow donor was available (n=40) and 20-25% if mismatched tissue was used. Data on the effect of bone marrow transplantation on biochemical and clinical disease variables were available in 29 of the 63. 28 had a follow-up duration of 1·0-10·2 years; 1 patient died of disease progression in the first year after stable engraftment. 13 patients who had severe neurological symptoms at the time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal symptoms because of various mucopolysaccharidoses (MPSs). There was stabilisation of the skeletal lesions during the observation period of 1·4-6·4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated after transplantation. We could not evaluate the biochemical and clinical variables in 34 patients because of graft rejection, transplant-related mortality, or follow-up of less than 1 year. There were significant beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease. Stabilisation of disease was observed in patients with MPS-I and MPS-II; this potential benefit needs to be confirmed by longer follow-up. Bone marow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.",

author = "Hoogerbrugge, {P. M.} and Brouwer, {O. F.} and P. Bordigoni and G. Cornu and P. Kapaun and Ortega, {J. J.} and A. O'Meara and G. Souillet and D. Frappaz and S. Blanche and A. Fischer and O. Ringden",

note = "Funding Information: the age of 3 years who had no neurological symptoms, but follow-up is still too short to draw conclusions. In patients with rapidly progressive Krabbe{\textquoteright}s disease BMT did not ameliorate symptoms.3o However, the data in our patient with late-onset Krabbe{\textquoteright}s disease indicate that stabilisation of neurological function may be obtained in this form of the disease. All our patients with metachromatic leucodystrophy continued to deteriorate after BMT With the exception of 1 child who had MLD and improved neurologically after BMT,{\textquoteright}S data reported by others indicate that BMT carried out in neurologically affected patients with MLD seldom results in improvement of the neurological function. 30 One report on BMT in a child with MLD suggested developmental improvement after BMT, but longer follow-up is needed.31 The availability of an HLA-identical sibling donor has to be taken into account in the decision about BMT treatment. Our data show that the transplant-related mortality increases 2 to 3-fold if such an HLA-identical family donor is not available. We hope that efficient gene transfer into haemopoietic stem cells will soon be available for these patients. This work was supported by grants from the EBMT group and the association {"}Vaincre les malades lysosomales{\textquoteright}, France. We thank Prof J Wladimiroff, Department of Obstretrics, University Hospital, Rotterdam, for his comments on the manuscript.",

year = "1995",

month = jun,

day = "3",

doi = "10.1016/S0140-6736(95)92597-X",

language = "English",

volume = "345",

pages = "1398--1402",

journal = "Lancet",

issn = "0140-6736",

publisher = "Elsevier B.V.",

number = "8962",

}

TY - JOUR

T1 - Allogeneic bone marrow transplantation for lysosomal storage diseases

AU - Hoogerbrugge, P. M.

AU - Brouwer, O. F.

AU - Bordigoni, P.

AU - Cornu, G.

AU - Kapaun, P.

AU - Ortega, J. J.

AU - O'Meara, A.

AU - Souillet, G.

AU - Frappaz, D.

AU - Blanche, S.

AU - Fischer, A.

AU - Ringden, O.

N1 - Funding Information: the age of 3 years who had no neurological symptoms, but follow-up is still too short to draw conclusions. In patients with rapidly progressive Krabbe’s disease BMT did not ameliorate symptoms.3o However, the data in our patient with late-onset Krabbe’s disease indicate that stabilisation of neurological function may be obtained in this form of the disease. All our patients with metachromatic leucodystrophy continued to deteriorate after BMT With the exception of 1 child who had MLD and improved neurologically after BMT,’S data reported by others indicate that BMT carried out in neurologically affected patients with MLD seldom results in improvement of the neurological function. 30 One report on BMT in a child with MLD suggested developmental improvement after BMT, but longer follow-up is needed.31 The availability of an HLA-identical sibling donor has to be taken into account in the decision about BMT treatment. Our data show that the transplant-related mortality increases 2 to 3-fold if such an HLA-identical family donor is not available. We hope that efficient gene transfer into haemopoietic stem cells will soon be available for these patients. This work was supported by grants from the EBMT group and the association "Vaincre les malades lysosomales’, France. We thank Prof J Wladimiroff, Department of Obstretrics, University Hospital, Rotterdam, for his comments on the manuscript.

PY - 1995/6/3

Y1 - 1995/6/3

N2 - Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients transplanted for lysosomal storage diseases. The transplant-related mortality was 10% if an HLA-identical sibling marrow donor was available (n=40) and 20-25% if mismatched tissue was used. Data on the effect of bone marrow transplantation on biochemical and clinical disease variables were available in 29 of the 63. 28 had a follow-up duration of 1·0-10·2 years; 1 patient died of disease progression in the first year after stable engraftment. 13 patients who had severe neurological symptoms at the time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal symptoms because of various mucopolysaccharidoses (MPSs). There was stabilisation of the skeletal lesions during the observation period of 1·4-6·4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated after transplantation. We could not evaluate the biochemical and clinical variables in 34 patients because of graft rejection, transplant-related mortality, or follow-up of less than 1 year. There were significant beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease. Stabilisation of disease was observed in patients with MPS-I and MPS-II; this potential benefit needs to be confirmed by longer follow-up. Bone marow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.

AB - Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients transplanted for lysosomal storage diseases. The transplant-related mortality was 10% if an HLA-identical sibling marrow donor was available (n=40) and 20-25% if mismatched tissue was used. Data on the effect of bone marrow transplantation on biochemical and clinical disease variables were available in 29 of the 63. 28 had a follow-up duration of 1·0-10·2 years; 1 patient died of disease progression in the first year after stable engraftment. 13 patients who had severe neurological symptoms at the time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal symptoms because of various mucopolysaccharidoses (MPSs). There was stabilisation of the skeletal lesions during the observation period of 1·4-6·4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated after transplantation. We could not evaluate the biochemical and clinical variables in 34 patients because of graft rejection, transplant-related mortality, or follow-up of less than 1 year. There were significant beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease. Stabilisation of disease was observed in patients with MPS-I and MPS-II; this potential benefit needs to be confirmed by longer follow-up. Bone marow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.

UR - http://www.scopus.com/inward/record.url?scp=0029634283&partnerID=8YFLogxK

U2 - 10.1016/S0140-6736(95)92597-X

DO - 10.1016/S0140-6736(95)92597-X

M3 - Article

C2 - 7760610

AN - SCOPUS:0029634283

SN - 0140-6736

VL - 345

SP - 1398

EP - 1402

JO - Lancet

JF - Lancet

IS - 8962

ER -

Allogeneic bone marrow transplantation for lysosomal storage diseases

Samenvatting

Toegang tot document

Vingerafdruk

Citeer dit