作者
Anna L Gray, Claire O'Leary, Aiyin Liao, Leticia Agúndez, Amir S Youshani, Hélène F Gleitz, Helen Parker, Jessica T Taylor, Olivier Danos, Michaël Hocquemiller, Nuria Palomar, R Michael Linden, Els Henckaerts, Rebecca J Holley, Brian W Bigger
发表日期
2019/9/1
期刊
Human Gene Therapy
卷号
30
期号
9
页码范围
1052-1066
出版商
Mary Ann Liebert, Inc., publishers
简介
Patients with the lysosomal storage disease mucopolysaccharidosis IIIA (MPSIIIA) lack the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), one of the many enzymes involved in degradation of heparan sulfate. Build-up of un-degraded heparan sulfate results in severe progressive neurodegeneration for which there is currently no treatment. Experimental gene therapies based on gene addition are currently being explored. Following preclinical evaluation in MPSIIIA mice, an adeno-associated virus vector of serotype rh10 designed to deliver SGSH and sulfatase modifying factor 1 (SAF301) was trialed in four MPSIIIA patients, showing good tolerance and absence of adverse events with some improvements in neurocognitive measures. This study aimed to improve SAF301 further by removing sulfatase modifying factor 1 (SUMF1) and assessing if expression of this gene is needed to increase the …
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AL Gray, C O'Leary, A Liao, L Agúndez, AS Youshani… - Human Gene Therapy, 2019