An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model

Sien Lequeue; Brendan P. Norman; Jessie Neuckermans; Haaike Colemonts-Vroninks; Juliette H Hughes; Paul Claes; Anja Heymans; Lakshminarayan Ranganath; James Gallagher; Tamara Vanhaecke; George Bou-Gharios; Joery De Kock

doi:10.1002/jimd.12668

An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model

Sien Lequeue, Brendan P. Norman, Jessie Neuckermans, Haaike Colemonts-Vroninks, Juliette H Hughes, Paul Claes, Anja Heymans, Lakshminarayan Ranganath, James Gallagher, Tamara Vanhaecke, George Bou-Gharios, Joery De Kock

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Alkaptonuria (AKU) is a rare inborn error of metabolism caused by a defective homogentisate 1,2-dioxygenase (HGD), an enzyme involved in the tyrosine degradation pathway. AKU is characterized by the accumulation of homogentisic acid (HGA) in connective body tissues and leads on the long term to an early-onset and severe osteoarthropathy. Nitisinone (NTBC) is currently used as the only effective treatment option for AKU patients in combination with a low protein diet but leads to severe and debilitating side effects. Therefore, the aim of this study was to investigate whether liver-directed adeno-associated viral vector (AAV)-based human HGD therapy can metabolically correct AKU in Hgd tm1a-/- mice.

Originele taal-2	English
DOI's	https://doi.org/10.1002/jimd.12668
Status	Published - 14 aug 2023
Evenement	Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023 - The International Convention Center - ICC, Jerusalem, Israel Duur: 27 sep 2022 → 1 sep 2023

Conference

Conference	Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023
Verkorte titel	SSIEM
Land/Regio	Israel
Stad	Jerusalem
Periode	27/09/22 → 1/09/23

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10.1002/jimd.12668

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Lequeue, S., Norman, B. P., Neuckermans, J., Colemonts-Vroninks, H., Hughes, J. H., Claes, P., Heymans, A., Ranganath, L., Gallagher, J., Vanhaecke, T., Bou-Gharios, G., & De Kock, J. (2023). An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model. Postersessie gepresenteerd op Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023, Jerusalem, Israel. https://doi.org/10.1002/jimd.12668

Lequeue, Sien ; Norman, Brendan P. ; Neuckermans, Jessie ; Colemonts-Vroninks, Haaike ; Hughes, Juliette H ; Claes, Paul ; Heymans, Anja ; Ranganath, Lakshminarayan ; Gallagher, James ; Vanhaecke, Tamara ; Bou-Gharios, George ; De Kock, Joery. / An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model. Postersessie gepresenteerd op Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023, Jerusalem, Israel.

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title = "An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model",

abstract = "Alkaptonuria (AKU) is a rare inborn error of metabolism caused by a defective homogentisate 1,2-dioxygenase (HGD), an enzyme involved in the tyrosine degradation pathway. AKU is characterized by the accumulation of homogentisic acid (HGA) in connective body tissues and leads on the long term to an early-onset and severe osteoarthropathy. Nitisinone (NTBC) is currently used as the only effective treatment option for AKU patients in combination with a low protein diet but leads to severe and debilitating side effects. Therefore, the aim of this study was to investigate whether liver-directed adeno-associated viral vector (AAV)-based human HGD therapy can metabolically correct AKU in Hgd tm1a-/- mice. ",

author = "Sien Lequeue and Norman, {Brendan P.} and Jessie Neuckermans and Haaike Colemonts-Vroninks and Hughes, {Juliette H} and Paul Claes and Anja Heymans and Lakshminarayan Ranganath and James Gallagher and Tamara Vanhaecke and George Bou-Gharios and {De Kock}, Joery",

year = "2023",

month = aug,

day = "14",

doi = "10.1002/jimd.12668",

language = "English",

note = "Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023, SSIEM ; Conference date: 27-09-2022 Through 01-09-2023",

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Lequeue, S, Norman, BP, Neuckermans, J, Colemonts-Vroninks, H, Hughes, JH, Claes, P , Heymans, A, Ranganath, L, Gallagher, J, Vanhaecke, T, Bou-Gharios, G & De Kock, J 2023, 'An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model', Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023, Jerusalem, Israel, 27/09/22 - 1/09/23. https://doi.org/10.1002/jimd.12668

An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model. / Lequeue, Sien; Norman, Brendan P.; Neuckermans, Jessie; Colemonts-Vroninks, Haaike; Hughes, Juliette H; Claes, Paul ; Heymans, Anja; Ranganath, Lakshminarayan; Gallagher, James; Vanhaecke, Tamara; Bou-Gharios, George; De Kock, Joery.

2023. Postersessie gepresenteerd op Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023, Jerusalem, Israel.

Onderzoeksoutput: Poster

TY - CONF

T1 - An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model

AU - Lequeue, Sien

AU - Norman, Brendan P.

AU - Neuckermans, Jessie

AU - Colemonts-Vroninks, Haaike

AU - Hughes, Juliette H

AU - Claes, Paul

AU - Heymans, Anja

AU - Ranganath, Lakshminarayan

AU - Gallagher, James

AU - Vanhaecke, Tamara

AU - Bou-Gharios, George

AU - De Kock, Joery

PY - 2023/8/14

Y1 - 2023/8/14

N2 - Alkaptonuria (AKU) is a rare inborn error of metabolism caused by a defective homogentisate 1,2-dioxygenase (HGD), an enzyme involved in the tyrosine degradation pathway. AKU is characterized by the accumulation of homogentisic acid (HGA) in connective body tissues and leads on the long term to an early-onset and severe osteoarthropathy. Nitisinone (NTBC) is currently used as the only effective treatment option for AKU patients in combination with a low protein diet but leads to severe and debilitating side effects. Therefore, the aim of this study was to investigate whether liver-directed adeno-associated viral vector (AAV)-based human HGD therapy can metabolically correct AKU in Hgd tm1a-/- mice.

AB - Alkaptonuria (AKU) is a rare inborn error of metabolism caused by a defective homogentisate 1,2-dioxygenase (HGD), an enzyme involved in the tyrosine degradation pathway. AKU is characterized by the accumulation of homogentisic acid (HGA) in connective body tissues and leads on the long term to an early-onset and severe osteoarthropathy. Nitisinone (NTBC) is currently used as the only effective treatment option for AKU patients in combination with a low protein diet but leads to severe and debilitating side effects. Therefore, the aim of this study was to investigate whether liver-directed adeno-associated viral vector (AAV)-based human HGD therapy can metabolically correct AKU in Hgd tm1a-/- mice.

U2 - 10.1002/jimd.12668

DO - 10.1002/jimd.12668

M3 - Poster

T2 - Society for The Study of Inborn Errors of Metabolism Annual Symposium 2023

Y2 - 27 September 2022 through 1 September 2023

ER -

An AAV-mediated liver-directed gene therapy metabolically corrects alkaptonuria in an Hgd deficient mouse model

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