Treatment of lysosomal storage disorder patients by drug-enhanced premature stop codon read-through

药物增强提前终止密码子通读治疗溶酶体贮积症患者

• 批准号: nhmrc : 511321
• 负责人: A/Pr Maria Fuller
• 金额: $ 28.79万
• 依托单位: University of South Australia
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2008
• 资助国家: 澳大利亚
• 起止时间: 2008-01-01 至 2010-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/treatment-lysosomal-storage-read-through/95298
• 关键词: Treatment; lysosomal; storage; disorder; patients

Lysosomal storage disorders are a devastating set of genetic diseases with very severe clinical symptoms. In this project, we will investigate a new treatment strategy that is non-invasive and that will be applicable for a wide range of lysosomal storage disorder patients. The therapy will over-ride the molecular genetic lesion and will be preferentially targeted for patients who are at the severe end of the clinical spectrum, where treatment options are currently limited.

溶酶体贮积症是一组毁灭性的遗传疾病，具有非常严重的临床症状。在这个项目中，我们将研究一种新的非侵入性治疗策略，该策略将适用于广泛的溶酶体贮积症患者。该疗法将克服分子遗传病变，并优先针对临床谱系严重的患者，目前治疗选择有限。