Experimental gene therapies for the NCLs

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1866

Review

Liu, Wenfei¹  Kleine-Holthaus, Sophia-Martha²  Herranz-Martin, Saul^1,6,7  Aristorena, Mikel²  Mole, Sara E.^3,4  Smith, Alexander J.²  Ali, Robin R.^2,5  Rahim, Ahad A.¹ 

[1] UCL, UCL Sch Pharm, London, England

[2] UCL, UCL Inst Ophthalmol, London, England

[3] UCL, MRC Lab Mol Cell Biol, Gower St, London WC1E 6BT, England

[4] UCL Great Ormond St Inst Child Hlth, 30 Guildford St, London WC1N 1EH, England

[5] Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London, England

[6] Univ Autonoma Madrid UAM, CSIC, UAM, Ctr Biol Mol Severo Ochoa, Madrid, Spain

[7] Univ Autonoma Madrid UAM, Dept Biol Mol, Madrid, Spain

关键词: Neuronal ceroid lipofuscinoses;    Batten disease;    Gene therapy;    Neurodegeneration;    Pre-clinical studies;    Clinical trials;   

DOI  :  10.1016/j.bbadis.2020.165772

来源: Elsevier

【 摘 要 】

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 NCL subtypes (CLN1-8, CLN10-14) have been identified, based on the particular disease-causing defective gene. The exact functions of NCL proteins and the pathological mechanisms underlying the diseases are still unclear. However, gene therapy has emerged as an attractive therapeutic strategy for this group of conditions. Here we provide a short review discussing updates on the current gene therapy studies for the NCLs.

【 授权许可】

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