医学
疾病
尼曼-皮克病,C型
基质还原疗法
尼曼-皮克病
临床试验
重症监护医学
遗传增强
溶酶体贮存病
生活质量(医疗保健)
生物信息学
酶替代疗法
内科学
基因
化学
护理部
生物
生物化学
作者
Tatiana Bremova‐Ertl,Susanne A. Schneider
标识
DOI:10.1080/14656566.2023.2215386
摘要
Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease-modifying treatment needs to be introduced early in the course of the disease. The only approved, disease-modifying treatment is a substrate-reduction treatment, miglustat. Given miglustat's limited efficacy, new compounds are under development, including gene therapy; however, many are still far from clinical use. Moreover, the phenotypic heterogeneity and variable course of the disease can impede the development and approval of new agents.Here, we offer an expert review of these therapeutic candidates, with a broad scope not only on the main pharmacotherapies, but also on experimental approaches, gene therapies, and symptomatic strategies. The National Institute of Health (NIH) database PubMed has been searched for the combination of the words 'Niemann-Pick type C'+ 'treatment' or 'therapy' or 'trial.' The website clinicaltrials.gov has also been consulted.We conclude a combination of treatment strategies should be sought, with a holistic approach, to improve the quality of life of affected individuals and their families.
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