Intrathecal enzyme replacement therapy reverses cognitive
decline in mucopolysaccharidosis type I.

J 2017

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.

NESTRASIL, Igor, Elsa SHAPIRO, Alena SVÁTKOVÁ, Patricia DICKSON, Agnes CHEN et. al.

Basic information

Original name

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.

Authors

NESTRASIL, Igor (203 Czech Republic), Elsa SHAPIRO (840 United States of America), Alena SVÁTKOVÁ (703 Slovakia, guarantor, belonging to the institution), Patricia DICKSON (840 United States of America), Agnes CHEN (840 United States of America), Amy WAKUMOTO (840 United States of America), Alia AHMED (840 United States of America), Edward STEHEL (840 United States of America), Sarah MCNEIL (840 United States of America), Curtis GRAVANCE (840 United States of America) and Elizabeth MAHER (840 United States of America)

Edition

American Journal of Medical Genetics Part A, 2017, 1552-4825

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30101 Human genetics

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.264

RIV identification code

RIV/00216224:14740/17:00098038

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.1002/ajmg.a.38073

UT WoS

000394903800034

Keywords in English

mucopolysaccharidosis; intrathecal administration; enzyme replacement therapy; neuropsychology; magnetic resonance imaging; diffusion tensor imaging; brain; blood-brain barrier

Abstract

V originále

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied -L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline. Neuropsychological testing and MRIs were performed twice prior (baseline, at 1 year) and twice after initiating IT rhIDU (at 2nd and 3rd years). The difference between pre- and post-treatment means was evaluated as a percentage of the change. Neurocognitive performance improved particularly in memory tests and resulted in improved school performance after IT rhIDU treatment. White matter (WM) integrity improved together with an increase of WM and corpus callosum volumes. Hippocampal and gray matter volume decreased which may either parallel reduction of glycosaminoglycan storage or reflect typical longitudinal brain changes in early adulthood. In conclusion, our outcomes suggest neurological benefits of IT rhIDU compared to the intravenous administration on brain structure and function in a single MPS IA patient. (C) 2017 Wiley Periodicals, Inc.

Links

LQ1601, research and development project

Name: CEITEC 2020 (Acronym: CEITEC2020)

Investor: Ministry of Education, Youth and Sports of the CR

Citovat

NESTRASIL, Igor, Elsa SHAPIRO, Alena SVÁTKOVÁ, Patricia DICKSON, Agnes CHEN, Amy WAKUMOTO, Alia AHMED, Edward STEHEL, Sarah MCNEIL, Curtis GRAVANCE and Elizabeth MAHER. Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I. American Journal of Medical Genetics Part A. 2017, vol. 173, No 3, p. 780-783. ISSN 1552-4825. Available from: https://dx.doi.org/10.1002/ajmg.a.38073.

@article{1393549,
   author = {Nestrasil, Igor and Shapiro, Elsa and Svátková, Alena and Dickson, Patricia and Chen, Agnes and Wakumoto, Amy and Ahmed, Alia and Stehel, Edward and McNeil, Sarah and Gravance, Curtis and Maher, Elizabeth},
   article_number = {3},
   doi = {http://dx.doi.org/10.1002/ajmg.a.38073},
   keywords = {mucopolysaccharidosis; intrathecal administration; enzyme replacement therapy; neuropsychology; magnetic resonance imaging; diffusion tensor imaging; brain; blood-brain barrier},
   language = {eng},
   issn = {1552-4825},
   journal = {American Journal of Medical Genetics Part A},
   title = {Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.},
   url = {http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38073/pdf},
   volume = {173},
   year = {2017}
}

TY  - JOUR
ID  - 1393549
AU  - Nestrasil, Igor - Shapiro, Elsa - Svátková, Alena - Dickson, Patricia - Chen, Agnes - Wakumoto, Amy - Ahmed, Alia - Stehel, Edward - McNeil, Sarah - Gravance, Curtis - Maher, Elizabeth
PY  - 2017
TI  - Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
JF  - American Journal of Medical Genetics Part A
VL  - 173
IS  - 3
SP  - 780-783
EP  - 780-783
SN  - 15524825
KW  - mucopolysaccharidosis
KW  - intrathecal administration
KW  - enzyme replacement therapy
KW  - neuropsychology
KW  - magnetic resonance imaging
KW  - diffusion tensor imaging
KW  - brain
KW  - blood-brain barrier
UR  - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38073/pdf
L2  - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38073/pdf
N2  - Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied -L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline. Neuropsychological testing and MRIs were performed twice prior (baseline, at 1 year) and twice after initiating IT rhIDU (at 2nd and 3rd years). The difference between pre- and post-treatment means was evaluated as a percentage of the change. Neurocognitive performance improved particularly in memory tests and resulted in improved school performance after IT rhIDU treatment. White matter (WM) integrity improved together with an increase of WM and corpus callosum volumes. Hippocampal and gray matter volume decreased which may either parallel reduction of glycosaminoglycan storage or reflect typical longitudinal brain changes in early adulthood. In conclusion, our outcomes suggest neurological benefits of IT rhIDU compared to the intravenous administration on brain structure and function in a single MPS IA patient. (C) 2017 Wiley Periodicals, Inc.
ER  -

NESTRASIL, Igor, Elsa SHAPIRO, Alena SVÁTKOVÁ, Patricia DICKSON, Agnes CHEN, Amy WAKUMOTO, Alia AHMED, Edward STEHEL, Sarah MCNEIL, Curtis GRAVANCE and Elizabeth MAHER. Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I. \textit{American Journal of Medical Genetics Part A}. 2017, vol.~173, No~3, p.~780-783. ISSN~1552-4825. Available from: https://dx.doi.org/10.1002/ajmg.a.38073.

Detailed Information on Publication Record