Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

M. Hirano; R. Martí; C. Casali; S. Tadesse; T. Uldrick; B. Fine; D. M. Escolar; M. L. Valentino; I. Nishino; C. Hesdorffer; J. Schwartz; R. G. Hawks; D. L. Martone; M. S. Cairo; S. DiMauro; M. Stanzani; J. H. Garvin; D. G. Savage

doi:10.1212/01.wnl.0000240853.97716.24

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

M. Hirano, R. Martí, C. Casali, S. Tadesse, T. Uldrick, B. Fine, D. M. Escolar, M. L. Valentino, I. Nishino, C. Hesdorffer, J. Schwartz, R. G. Hawks, D. L. Martone, M. S. Cairo, S. DiMauro, M. Stanzani, J. H. Garvin, D. G. Savage

Research output: Contribution to journal › Article › peer-review

134 Scopus citations

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.

Original language	English (US)
Pages (from-to)	1458-1460
Number of pages	3
Journal	Neurology
Volume	67
Issue number	8
DOIs	https://doi.org/10.1212/01.wnl.0000240853.97716.24
State	Published - Oct 2006
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

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Hirano, M., Martí, R., Casali, C., Tadesse, S., Uldrick, T., Fine, B., Escolar, D. M., Valentino, M. L., Nishino, I., Hesdorffer, C., Schwartz, J., Hawks, R. G., Martone, D. L., Cairo, M. S., DiMauro, S., Stanzani, M., Garvin, J. H., & Savage, D. G. (2006). Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology, 67(8), 1458-1460. https://doi.org/10.1212/01.wnl.0000240853.97716.24

Hirano, M, Martí, R, Casali, C, Tadesse, S, Uldrick, T, Fine, B, Escolar, DM, Valentino, ML, Nishino, I, Hesdorffer, C, Schwartz, J, Hawks, RG, Martone, DL, Cairo, MS, DiMauro, S, Stanzani, M, Garvin, JH & Savage, DG 2006, 'Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE', Neurology, vol. 67, no. 8, pp. 1458-1460. https://doi.org/10.1212/01.wnl.0000240853.97716.24

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title = "Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE",

abstract = "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.",

author = "M. Hirano and R. Mart{\'i} and C. Casali and S. Tadesse and T. Uldrick and B. Fine and Escolar, {D. M.} and Valentino, {M. L.} and I. Nishino and C. Hesdorffer and J. Schwartz and Hawks, {R. G.} and Martone, {D. L.} and Cairo, {M. S.} and S. DiMauro and M. Stanzani and Garvin, {J. H.} and Savage, {D. G.}",

note = "Funding Information: Supported by grants from the NIH (P01NS11766), Muscular Dystrophy Association, the Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF) (M.H.), and Swim Across America (J.H.G.), and the Pediatric Cancer Research Foundation (M.S.C.). ",

year = "2006",

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doi = "10.1212/01.wnl.0000240853.97716.24",

language = "English (US)",

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T1 - Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

AU - Hirano, M.

AU - Martí, R.

AU - Casali, C.

AU - Tadesse, S.

AU - Uldrick, T.

AU - Fine, B.

AU - Escolar, D. M.

AU - Valentino, M. L.

AU - Nishino, I.

AU - Hesdorffer, C.

AU - Schwartz, J.

AU - Hawks, R. G.

AU - Martone, D. L.

AU - Cairo, M. S.

AU - DiMauro, S.

AU - Stanzani, M.

AU - Garvin, J. H.

AU - Savage, D. G.

N1 - Funding Information: Supported by grants from the NIH (P01NS11766), Muscular Dystrophy Association, the Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF) (M.H.), and Swim Across America (J.H.G.), and the Pediatric Cancer Research Foundation (M.S.C.).

PY - 2006/10

Y1 - 2006/10

N2 - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.

AB - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.

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JF - Neurology

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Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

Abstract

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