Bremova-Ertl Tatiana, Schneider Susanne
Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland.
Center for Rare Diseases, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland.
Expert Opin Pharmacother. 2023 May-Aug;24(11):1229-1247. doi: 10.1080/14656566.2023.2215386. Epub 2023 May 21.
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.
尼曼-匹克病C型（NPC）是一种罕见的常染色体隐性溶酶体贮积症。为对抗NPC中的进行性神经退行性变，需要在疾病进程早期引入疾病修饰治疗。唯一获批的疾病修饰治疗是底物减少治疗药物米格鲁司他。鉴于米格鲁司他疗效有限，包括基因治疗在内的新化合物正在研发中；然而，许多仍远未进入临床应用阶段。此外，疾病的表型异质性和可变病程可能会阻碍新药物的研发和获批。
在此，我们对这些治疗候选药物进行专家综述，范围广泛，不仅涵盖主要药物治疗，还包括实验方法、基因治疗和对症治疗策略。已在国立医学图书馆（NIH）数据库PubMed中搜索“尼曼-匹克病C型”+“治疗”或“疗法”或“试验”的组合词。还查阅了临床试验网站clinicaltrials.gov。
我们得出结论，应采用整体方法寻求联合治疗策略，以提高受影响个体及其家庭的生活质量。
